Central Core Myopathy

1. Disease Information

1.1 Overview (what is the disease?)

CCD is an inherited muscle disorder (congenital myopathy) defined by the presence of central cores in muscle biopsy, typically in type I fibers, and associated congenital-myopathy clinical features (hypotonia, delayed motor milestones, proximal weakness). (baba2024anestheticmanagementof pages 1-2)

1.2 Key identifiers and ontology mappings

Authoritative identifiers available from retrieved sources: - MONDO: MONDO:0007294 (user-specified target) (artifact-00) - OMIM disease: 117000 (Central core disease) (lillis2012clinicalutilitygene pages 1-2) - OMIM gene: RYR1 *180901 (lillis2012clinicalutilitygene pages 1-2) - MeSH: D020512 (“Myopathy, Central Core”) (NCT06157268 chunk 3)

Not found in retrieved evidence: explicit Orphanet (ORPHA) numeric identifier and ICD-10/ICD-11 codes.

1.3 Synonyms / alternative names

• Central core disease (CCD) (lillis2012clinicalutilitygene pages 1-2)
• Central core myopathy (baba2024anestheticmanagementof pages 1-2)
• Central core myopathy (CCM) (crisafulli2024casereporta pages 1-2)

1.4 Evidence provenance

Evidence in this report is derived from aggregated disease resources (e.g., gene cards and reviews), cohort studies, clinical trials registries, and case reports; not from EHR-only sources. (lillis2012clinicalutilitygene pages 1-2, cotta2022centralcoredisease pages 4-6, NCT02362425 chunk 1)

Table: This table compiles core disease-level facts for Central Core Myopathy/Disease, including identifiers, naming, epidemiology, inheritance, and hallmark clinical-pathologic findings. It is designed as a compact evidence-backed reference for knowledge-base population.

2. Etiology

2.1 Disease causal factors

Primary cause: Germline pathogenic variants in RYR1 are the major cause of CCD/central core myopathy. (leao2020dominantorrecessive pages 2-3, cotta2022centralcoredisease pages 7-9)

Rare alternative/phenocopy cause: Recessive CCD due to NEB variants has been reported (gene-card evidence; details not captured in retrieved pages). (lillis2012clinicalutilitygene pages 5-5)

2.2 Risk factors

Genetic risk factors

• RYR1 pathogenic variants (dominant or recessive) are causal. Many CCD alleles are missense variants, with clustering in the C-terminal hotspot region, but pathogenic variants also occur outside hotspots—supporting whole-gene sequencing strategies. (leao2020dominantorrecessive pages 1-2, cotta2022centralcoredisease pages 7-9)
• MH risk is an important associated risk: RYR1 variants may confer susceptibility to malignant hyperthermia, sometimes independently of overt myopathy severity. (lillis2012clinicalutilitygene pages 4-5, rosenberg2015malignanthyperthermiaa pages 4-5)

Environmental/iatrogenic risk factors

• Exposure to malignant hyperthermia triggers (volatile anesthetics and succinylcholine) is a major avoidable risk for life-threatening MH episodes in susceptible individuals. (baba2024anestheticmanagementof pages 1-2, rosenberg2015malignanthyperthermiaa pages 4-5)
• Exertion/heat can precipitate episodic symptoms (myalgia, rhabdomyolysis) across the RYR1 spectrum. (crisafulli2024casereporta pages 1-2, o’connor2023ryr1relateddiseasesinternational pages 3-4)

2.3 Protective factors

No specific genetic protective alleles or proven environmental protective factors were identified in the retrieved CCD-focused evidence. Tailored exercise programs may reduce deconditioning and improve fitness while minimizing rhabdomyolysis risk, but are not “protective” in a causal sense. (crisafulli2024casereporta pages 1-2)

2.4 Gene–environment interactions

Best-supported interaction is RYR1 genotype × anesthetic trigger exposure, which can precipitate MH through abnormal RyR1-mediated Ca2+ release and hypermetabolism. (rosenberg2015malignanthyperthermiaa pages 4-5)

3. Phenotypes

3.1 Core phenotype spectrum

Across cohorts and surveys, CCD/RYR1-related disease most commonly features: - Early hypotonia and delayed motor milestones (cotta2022centralcoredisease pages 4-6) - Predominantly proximal weakness (96% in a CCD cohort) with variable distal/axial involvement (cotta2022centralcoredisease pages 4-6) - Orthopedic complications including congenital hip dislocation, clubfeet, scoliosis/kyphoscoliosis, contractures (cotta2022centralcoredisease pages 4-6, raga2024treatmentsforryr1relateddisorders pages 12-13) - Myalgia/cramps, fatigue, heat intolerance, exercise limitations—prominent in patient-reported studies across the RYR1 spectrum (o’connor2023ryr1relateddiseasesinternational pages 3-4, camp2024individualsandfamilies pages 13-15)

3.2 Frequencies, onset, severity, progression

Quantitative cohort data (example single-center CCD cohort, Brazil, n=27): - Childhood onset in almost all patients (cotta2022centralcoredisease pages 4-6) - Hypotonia: 14/23; developmental delay: 15/23 (cotta2022centralcoredisease pages 4-6) - Proximal weakness: 96%; distal weakness 26%; axial weakness 32% (cotta2022centralcoredisease pages 4-6) - Deep tendon reflexes absent 45%, decreased 29% (cotta2022centralcoredisease pages 4-6) - CK normal/near normal in 84% (cotta2022centralcoredisease pages 4-6) - Facial weakness 8/27 overall, but much higher in biallelic vs monoallelic cases (71% vs 6.7%), suggesting facial weakness as a marker of recessive/biallelic disease in that cohort. (cotta2022centralcoredisease pages 7-9)

Patient-reported disease burden (international RYR1-RD survey summarized at 2022 workshop; n=226): - Most common self-reported diagnosis: CCD 53.2% (o’connor2023ryr1relateddiseasesinternational pages 3-4) - Ambulation: 64.2% walk unassisted; 11.9% require assistance; 5.8% require wheelchair assistance (o’connor2023ryr1relateddiseasesinternational pages 3-4) - Disease course perception: 47.1% progressive, 33.9% non-progressive (o’connor2023ryr1relateddiseasesinternational pages 3-4) - Challenges: 88.9% physical, 63.7% emotional, 58% social (o’connor2023ryr1relateddiseasesinternational pages 3-4)

Patient/caregiver perspective study (2024; n=227) similarly found that only 8% reported no impact on well-being and emphasized fatigue/weakness and higher burden in congenital myopathies compared with MHS. (camp2024individualsandfamilies pages 13-15)

3.3 Quality of life impact

Patient-reported evidence shows substantial impact on overall well-being, functional limitations, fatigue and pain, with congenital myopathy phenotypes (including CCD) more affected than MHS-only phenotypes. (camp2024individualsandfamilies pages 13-15)

3.4 Suggested HPO terms

Table: This table maps major clinical features reported for central core disease/myopathy to suggested HPO terms, with onset/course and frequency notes drawn from cohort and survey evidence. It is useful for structured phenotype annotation and knowledge-base population.

4. Genetic / Molecular Information

4.1 Causal genes

• RYR1 is the principal causal gene for CCD/central core myopathy. (leao2020dominantorrecessive pages 2-3, cotta2022centralcoredisease pages 7-9)
• NEB: rare recessive CCD reported (limited details in retrieved evidence). (lillis2012clinicalutilitygene pages 5-5)

4.2 Pathogenic variant classes, hotspots, and example alleles

In RYR1-related CCD cohorts, the variant spectrum is predominantly missense, with additional truncating/intronic variants: - In one Brazilian cohort, 22/23 variants were missense and 1 was frameshift (leao2020dominantorrecessive pages 2-3) - In another CCD cohort, 16/18 variants were missense, 1 nonsense, 1 intronic (cotta2022centralcoredisease pages 7-9)

Hotspots/domain trends: - CCD alleles often cluster in a C-terminal “D3” hotspot region, while MH alleles are commonly in N-terminal/central hotspots, although overlap occurs and variants outside hotspots exist. (leao2020dominantorrecessive pages 1-2, cotta2022centralcoredisease pages 9-10)

Monoallelic vs biallelic inheritance: - Biallelic (recessive/compound heterozygous) disease can represent a substantial fraction of cases in some series (e.g., 6/14 families biallelic in one cohort). (cotta2022centralcoredisease pages 7-9)

4.3 Functional consequences (mechanistic genotype → phenotype)

• MH is frequently described as gain-of-function (hypersensitive RyR1 with excessive SR Ca2+ release). (schartner2019abnormalexcitationcontractioncoupling pages 4-6)
• CCD is often described as loss-of-function / ECC uncoupling with reduced depolarization-induced Ca2+ release, though some variants may also produce Ca2+ leak phenotypes. (parker2017functionalcharacterizationof pages 1-3)

4.4 Modifier genes / epigenetics

No specific validated modifier genes for CCD were identified in retrieved evidence beyond broader discussions of Ca2+ handling and oxidative stress pathways; the 2023 workshop report emphasizes discovery of modifiers and high-throughput screens for RyR1 and SERCA1 modulators. (o’connor2023ryr1relateddiseasesinternational pages 14-16)

Table: This table summarizes the main genetic and molecular evidence for central core disease/myopathy, emphasizing RYR1 as the principal causal gene, the distribution of inheritance patterns, reported variant classes, representative alleles, and hotspot/domain information. It is useful for quickly mapping genotype architecture and evidence strength across key foundational studies.

5. Environmental Information

5.1 Environmental and lifestyle contributors

CCD is primarily genetic; major clinically actionable environmental exposures relate to anesthetic triggers of MH and to exertional/heat stress that may precipitate myalgia or rhabdomyolysis in some RYR1 phenotypes. (rosenberg2015malignanthyperthermiaa pages 4-5, crisafulli2024casereporta pages 1-2)

5.2 Infectious agents

Not applicable as a primary etiology based on retrieved evidence.

6. Mechanism / Pathophysiology

6.1 Core mechanistic concept: ECC and Ca2+ dysregulation

RyR1 mediates SR Ca2+ release during skeletal muscle ECC. RYR1 variants can cause: - Excess Ca2+ release/leak (MH-type gain-of-function): hypersensitivity to triggers → uncontrolled Ca2+ release → increased contractile activity and hypermetabolism; SERCA is unable to resequester Ca2+ adequately, increasing ATP consumption and heat. (rosenberg2015malignanthyperthermiaa pages 4-5) - Reduced Ca2+ release / ECC uncoupling (CCD-type loss-of-function): reduced depolarization-induced Ca2+ release and impaired contraction. (parker2017functionalcharacterizationof pages 1-3)

6.2 SOICR (store overload-induced Ca2+ release)

A mechanistic study showed that multiple RyR1 mutations associated with MH and CCD reduce the threshold for SOICR, promoting spontaneous SR Ca2+ release and contracture; dantrolene suppresses SOICR in this model system. (chen2017reducedthresholdfor pages 1-3)

6.3 SOCE and Ca2+ entry pathways

Reviews describe involvement of store-operated Ca2+ entry (STIM1–ORAI1) and other Ca2+ entry pathways in MH-susceptible muscle, linking RyR1 dysfunction to sustained Ca2+ dysregulation. (rosenberg2015malignanthyperthermiaa pages 4-5, schartner2019abnormalexcitationcontractioncoupling pages 1-2)

6.4 Mitochondrial depletion and core pathology

Core lesions show reduced oxidative activity and scarce mitochondria in biopsies, consistent with downstream mitochondrial damage/dysfunction. Mechanistic reviews outline feed-forward loops where Ca2+ leak and oxidative stress (including RyR1 post-translational modifications and FKBP12/calstabin dissociation) promote cytosolic Ca2+ overload, proteolysis, mitochondrial dysfunction and cell death. (cotta2022centralcoredisease pages 4-6, campuzanodonoso2026molecularbasesof pages 7-9)

6.5 Suggested ontology terms

• GO Biological Process (examples to annotate; IDs to verify): excitation–contraction coupling; sarcoplasmic reticulum calcium ion release; regulation of cytosolic calcium ion concentration; response to oxidative stress; mitochondrial organization.
• GO Cellular Component (examples; IDs to verify): sarcoplasmic reticulum membrane; triad; ryanodine receptor complex; mitochondrion.
• CL Cell types (examples; IDs to verify): skeletal muscle fiber (type I), skeletal muscle cell/myofiber.

7. Anatomical Structures Affected

7.1 Primary organs/systems

• Skeletal muscle system (primary), especially muscles with selective involvement patterns on imaging (e.g., thigh/lower limb muscles) (lillis2012clinicalutilitygene pages 1-2, cotta2022centralcoredisease media ead0977b)

7.2 Tissue/cell level

• Skeletal muscle fibers, particularly type I fibers with core lesions. (baba2024anestheticmanagementof pages 1-2)

7.3 Subcellular level

• Triad/ECC machinery (T-tubule/SR junction including DHPR–RyR1 coupling) and mitochondria (core-associated depletion/dysfunction). (schartner2019abnormalexcitationcontractioncoupling pages 1-2, cotta2022centralcoredisease pages 4-6)

7.4 Localization (imaging-guided)

Selective muscle involvement patterns (e.g., relative rectus femoris sparing compared with vasti) can guide biopsy and support RYR1 involvement. (lillis2012clinicalutilitygene pages 1-2, cotta2022centralcoredisease media ead0977b)

8. Temporal Development

8.1 Onset

Typically congenital/neonatal or childhood onset; adult recognition can occur, especially with mild cases and delayed diagnosis. (cotta2022centralcoredisease pages 4-6, o’connor2023ryr1relateddiseasesinternational pages 3-4)

8.2 Progression

Often described as non-progressive or slowly progressive in classic dominant CCD, but patient-reported data show heterogeneity, with ~47% perceiving progression. (o’connor2023ryr1relateddiseasesinternational pages 3-4, camp2024individualsandfamilies pages 5-7)

8.3 Critical periods

Peri-anesthesia exposure to MH-triggering agents represents a critical risk period. (rosenberg2015malignanthyperthermiaa pages 4-5)

9. Inheritance and Population

9.1 Epidemiology

Frequency estimates reported: - Regional CCD frequency estimate: 1 in 250,000 (north of England study cited in gene card). (lillis2012clinicalutilitygene pages 1-2) - Central core myopathy prevalence estimate cited in 2024 case report: 1–9 per 1,000,000. (crisafulli2024casereporta pages 1-2)

Related RYR1/MH population genetics context in gene card: - Carrier frequency for heterozygous RYR1 mutations in Japan estimated as high as 1 in 2,000 (lillis2012clinicalutilitygene pages 2-3) - Allelic MHS trait estimated 1 in 3,000–10,000; clinical MH reaction prevalence 1 in 60,000–100,000 (gene card summary). (lillis2012clinicalutilitygene pages 2-3)

9.2 Inheritance patterns

• Predominantly autosomal dominant, with recessive/biallelic cases increasingly recognized. (lillis2012clinicalutilitygene pages 1-2, cotta2022centralcoredisease pages 7-9)

Survey-reported inheritance across RYR1-RD (not population-based): autosomal dominant 27.0%, autosomal recessive 26.1%, de novo 9.3%, unknown 32.7%. (o’connor2023ryr1relateddiseasesinternational pages 3-4)

9.3 Demographics

In a 2024 survey cohort, ages ranged 0–85 years, mean 37±21, with 143 females and 84 males. (camp2024individualsandfamilies pages 4-5)

10. Diagnostics

10.1 Clinical tests

• CK: usually normal/near-normal in classic CCD cohorts (84%), though may be elevated in broader RYR1 phenotypes. (cotta2022centralcoredisease pages 4-6)
• EMG: myopathic pattern common (88% in one cohort). (cotta2022centralcoredisease pages 4-6)

10.2 Imaging

Characteristic MRI pattern can be highly suggestive of RYR1 involvement and can be used to guide biopsy. (lillis2012clinicalutilitygene pages 1-2, cotta2022centralcoredisease media ead0977b)

10.3 Biopsy

Core lesions with oxidative enzyme depletion are hallmark findings; biopsy processing includes oxidative stains (SDH/COX/NADH) and routine histology. (lillis2012clinicalutilitygene pages 1-2, cotta2022centralcoredisease pages 2-4)

10.4 Genetic testing

Gene card recommends sequencing the entire RYR1 gene; modern real-world practice often uses neuromuscular NGS panels and broad exome panels with ACMG classification and segregation confirmation. (lillis2012clinicalutilitygene pages 1-2, cotta2022centralcoredisease pages 2-4)

10.5 Malignant hyperthermia testing

IVCT/CHCT remains a diagnostic standard but is invasive and limited to specialized centers; DNA testing is increasingly used but challenged by variant interpretation and coverage gaps. (rosenberg2015malignanthyperthermiaa pages 6-8)

Table: This table summarizes the main diagnostic modalities used for central core disease/myopathy, what each contributes, and how they help distinguish CCD from overlapping congenital myopathies and malignant hyperthermia susceptibility.

11. Outcome / Prognosis

CCD prognosis is variable and dependent on genotype (monoallelic vs biallelic), severity of weakness, respiratory involvement, and orthopedic complications. Survey data show that most individuals remain ambulant, but a meaningful subset requires wheelchair assistance and many perceive progression. (camp2024individualsandfamilies pages 4-5, o’connor2023ryr1relateddiseasesinternational pages 3-4)

Quantitative survival and life expectancy statistics specific to CCD were not found in retrieved evidence.

12. Treatment

12.1 Standard of care and supportive management

• Supportive care including physiotherapy/rehabilitation and orthopedic management is standard; no cure is established. (crisafulli2024casereporta pages 1-2, ziemian2025integrativeapproachesto pages 36-37)

12.2 Perioperative management (real-world implementation)

Trigger-free anesthesia and careful neuromuscular monitoring are recommended for CCD patients given MH risk; a 2024 case report provides detailed workstation preparation and monitoring steps and emphasizes immediate dantrolene availability. (baba2024anestheticmanagementof pages 1-2)

12.3 Pharmacologic/interventional evidence and trials

• NAC (antioxidant): NIH phase II RCT summarized in workshop report; 33 randomized; NAC 30 mg/kg/day for 6 months; did not improve urine 15-F2t isoprostane or 6MWT. ClinicalTrials.gov record NCT02362425 provides trial metadata (completed; results posted 2019-12-24). (o’connor2023ryr1relateddiseasesinternational pages 13-14, NCT02362425 chunk 1)
• Salbutamol/albuterol: small pilot and case evidence suggest improved myometry/MRC/FVC in CCD/MmD cohorts and in individual case(s). (raga2024treatmentsforryr1relateddisorders pages 13-15)
• Rycal S48168 (ARM210): phase I trial (NCT04141670) summarized by workshop report: 7 participants, 1 month dosing; well tolerated; fatigue scores decreased and shoulder strength trended higher in high-dose group. (o’connor2023ryr1relateddiseasesinternational pages 13-14, NCT04141670 chunk 2)

12.4 MAXO suggestions

See treatment artifact below for suggested MAXO/CHEBI mappings.

Table: This table summarizes current and emerging treatments, supportive management, and trial activity relevant to central core disease/myopathy, emphasizing 2023-2024 developments and real-world implementation details. It is useful for linking interventions to mechanism, evidence strength, safety, and ontology annotations.

13. Prevention

The most evidence-supported preventive strategy is primary prevention of MH crises by avoiding triggering anesthetics in individuals with CCD/RYR1 variants and ensuring availability of dantrolene and appropriate perioperative protocols. (baba2024anestheticmanagementof pages 1-2, rosenberg2015malignanthyperthermiaa pages 4-5)

Genetic counseling and cascade testing in families can prevent unrecognized MH risk during anesthesia. (lillis2012clinicalutilitygene pages 4-5)

14. Other Species / Natural Disease

Direct naturally occurring CCD analogs in companion animals were not retrieved for CCD specifically; however, malignant hyperthermia occurs in multiple species (including pigs), and porcine RyR1 mutation R615C is referenced mechanistically for SOICR enhancement. (chen2017reducedthresholdfor pages 1-3)

15. Model Organisms

Model systems used for RYR1/CCD mechanism and therapy development include: - Mouse models: RYR1 knock-in MH models (e.g., R2509C) used for therapy testing; inducible muscle-specific RYR1 knockout mice; models for severe recessive RYR1 myopathy. (o’connor2023ryr1relateddiseasesinternational pages 8-10, o’connor2023ryr1relateddiseasesinternational pages 10-11) - Zebrafish and C. elegans: used for large-scale drug screens and modifier discovery. (o’connor2023ryr1relateddiseasesinternational pages 10-11) - Cellular/in vitro systems: HEK293-based RyR1 assays and reconstituted ECC platform; primary human myoblasts/myotubes derived from patient biopsies used for Ca2+ release assays and screening. (o’connor2023ryr1relateddiseasesinternational pages 8-10, cacheux2015functionalcharacterizationof pages 1-3) - Human myoblast gene editing: prime editing correction of RYR1 T4709M in human myoblasts (59% correction). (godbout2023successfulcorrectionby pages 1-3)

Figure evidence (imaging + biopsy)

A cohort figure demonstrates a typical selective muscle imaging pattern and biopsy core findings (fat replacement in vastus lateralis with relative rectus femoris preservation; biopsy/EM images of cores). (cotta2022centralcoredisease media ead0977b)

Recent developments and expert analysis (2023–2024 emphasis)

1) Patient-centered disease burden and trial readiness: 2023 workshop and 2024 patient/caregiver studies emphasize fatigue, psychosocial impact, and willingness to participate in trials, supporting patient-driven registry infrastructure and outcome-measure development. (o’connor2023ryr1relateddiseasesinternational pages 3-4, camp2024individualsandfamilies pages 13-15, o’connor2023ryr1relateddiseasesinternational pages 14-16)

2) Therapeutic pipeline maturation: completion of early-phase trials (NAC; ARM210/S48168) and design of ongoing trials (e.g., COMPIS salbutamol trial) reflect increasing interventional maturity, with emphasis on standardized functional endpoints (MFM-32, 6MWT, FVC). (o’connor2023ryr1relateddiseasesinternational pages 13-14, o’connor2023ryr1relateddiseasesinternational pages 11-13)

3) Mechanism-driven therapies: mechanistic work on Ca2+ leak/SOICR and channel-stabilizing compounds underpins Rycal development and supports exploration of additional RyR1 modulators; dantrolene remains a mechanistically grounded acute therapy for MH and suppresses SOICR in cellular models. (chen2017reducedthresholdfor pages 1-3, o’connor2023ryr1relateddiseasesinternational pages 13-14)

4) Gene correction proof-of-concept: prime editing correction in human myoblasts (2023) demonstrates feasibility of precise correction for RYR1 point mutations, with delivery as a major remaining barrier. (godbout2023successfulcorrectionby pages 1-3, o’connor2023ryr1relateddiseasesinternational pages 10-11)

Limitations of retrieved evidence

• Explicit Orphanet (ORPHA) and ICD-10/ICD-11 codes were not identified in retrieved texts.
• CCD-specific mortality/life expectancy data and robust population incidence were not retrieved.
• Some ontology IDs (HPO/GO/CL/CHEBI/MAXO) are suggested where standard, but several require verification against the current ontology releases.

References

1. (lillis2012clinicalutilitygene pages 1-2): Suzanne Lillis, Stephen Abbs, Clemens R Mueller, Francesco Muntoni, and Heinz Jungbluth. Clinical utility gene card for: central core disease. European Journal of Human Genetics, 20:-, Oct 2012. URL: https://doi.org/10.1038/ejhg.2011.179, doi:10.1038/ejhg.2011.179. This article has 10 citations and is from a domain leading peer-reviewed journal.

2. (cotta2022centralcoredisease pages 4-6): Ana Cotta, Lucas Santos Souza, Elmano Carvalho, Leticia Nogueira Feitosa, Antonio Cunha, Monica Machado Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes Neves, Rafael Xavier-Neto, Antonio Pedro Vargas, Reinaldo Issao Takata, Julia Filardi Paim, and Mariz Vainzof. Central core disease: facial weakness differentiating biallelic from monoallelic forms. Genes, 13:760, Apr 2022. URL: https://doi.org/10.3390/genes13050760, doi:10.3390/genes13050760. This article has 6 citations.

3. (campuzanodonoso2026molecularbasesof pages 7-9): Martín Campuzano-Donoso, Claudia Reytor-González, Melannie Toral-Noristz, Yamilia González, and Daniel Simancas-Racines. Molecular bases of myopathies and their impact on clinical practice: advances and future perspectives. International Journal of Molecular Sciences, 27:1392, Jan 2026. URL: https://doi.org/10.3390/ijms27031392, doi:10.3390/ijms27031392. This article has 1 citations.

4. (o’connor2023ryr1relateddiseasesinternational pages 3-4): Thomas N. O’Connor, L. R. van den Bersselaar, Y. Chen, Stefan Nicolau, Brentney Simon, Andrew Huseth, Joshua J. Todd, Filip Van Petegem, Anna Sarkozy, Michael F. Goldberg, N. Voermans, Robert T. Dirksen, Leslie Johann Carsten Oliver Razvan Robert James Michael Biesecker Böhm Bönnemann Clarke Cornea Dirksen Dow, Leslie Biesecker, Johann Böhm, Carsten G Bönnemann, Oliver Clarke, Razvan Cornea, Robert T. Dirksen, James Dowling, Michael F. Goldberg, Susan Hamilton, Drew Huseth, H. Jungbluth, Tokunbor A. Lawal, A. Marks, Isabelle Marty, L. Medne, Eva Michael, P. Mohassel, Takashi Murayama, S. Riazi, Anna Sarkozy, Brentney Simon, Joshua J. Todd, Jacques Tremblay, S. Treves, L. R. van den Bersselaar, Filip Van Petegem, N. Voermans, and N. Witting. Ryr-1-related diseases international research workshop: from mechanisms to treatments pittsburgh, pa, u.s.a., 21-22 july 2022. Journal of Neuromuscular Diseases, 10:135-154, Jan 2023. URL: https://doi.org/10.3233/jnd-221609, doi:10.3233/jnd-221609. This article has 10 citations and is from a peer-reviewed journal.

5. (baba2024anestheticmanagementof pages 1-2): Hiroko Baba, Ryo Wakabayashi, Hiroki Ichiyanagi, Aki Suzuki, and Nobukazu Sato. Anesthetic management of a patient with central core disease undergoing thoracoscopic lung resection: the importance of neuromuscular monitoring at the masseter muscle. Cureus, Jan 2024. URL: https://doi.org/10.7759/cureus.52456, doi:10.7759/cureus.52456. This article has 1 citations.

6. (NCT06157268 chunk 3): The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.. Radboud University Medical Center. 2024. ClinicalTrials.gov Identifier: NCT06157268

7. (crisafulli2024casereporta pages 1-2): Oscar Crisafulli, Jessica Lacetera, Giorgio Bottoni, Angela Berardinelli, Luca Grattarola, Martina Veltroni, Stefano Acquadro, Massimo Negro, Emanuela Lavaselli, and Giuseppe D’Antona. Case report: a creatine kinase-borg scale values-based approach to tailor physical training in a central core myopathy patient. Frontiers in Physiology, Jul 2024. URL: https://doi.org/10.3389/fphys.2024.1404657, doi:10.3389/fphys.2024.1404657. This article has 7 citations.

8. (NCT02362425 chunk 1): Antioxidant Therapy in RYR1-Related Congenital Myopathy. National Institute of Nursing Research (NINR). 2015. ClinicalTrials.gov Identifier: NCT02362425

9. (lillis2012clinicalutilitygene pages 2-3): Suzanne Lillis, Stephen Abbs, Clemens R Mueller, Francesco Muntoni, and Heinz Jungbluth. Clinical utility gene card for: central core disease. European Journal of Human Genetics, 20:-, Oct 2012. URL: https://doi.org/10.1038/ejhg.2011.179, doi:10.1038/ejhg.2011.179. This article has 10 citations and is from a domain leading peer-reviewed journal.

10. (camp2024individualsandfamilies pages 4-5): Sanne A.J.H. van de Camp, Lizan Stinissen, Andrew Huseth, Brentney Simon, Jennifer Ryan, Anna Sarkozy, Filip Van Petegem, Michael F. Goldberg, Heinz Jungbluth, Johann Böhm, Wija Oortwijn, Robert T. Dirksen, and Nicol C. Voermans. Individuals and families affected by ryr1-related diseases: the patient/caregiver perspective. Journal of Neuromuscular Diseases, 11:1067-1083, Aug 2024. URL: https://doi.org/10.3233/jnd-240029, doi:10.3233/jnd-240029. This article has 2 citations and is from a peer-reviewed journal.

11. (cotta2022centralcoredisease pages 2-4): Ana Cotta, Lucas Santos Souza, Elmano Carvalho, Leticia Nogueira Feitosa, Antonio Cunha, Monica Machado Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes Neves, Rafael Xavier-Neto, Antonio Pedro Vargas, Reinaldo Issao Takata, Julia Filardi Paim, and Mariz Vainzof. Central core disease: facial weakness differentiating biallelic from monoallelic forms. Genes, 13:760, Apr 2022. URL: https://doi.org/10.3390/genes13050760, doi:10.3390/genes13050760. This article has 6 citations.

12. (cotta2022centralcoredisease pages 9-10): Ana Cotta, Lucas Santos Souza, Elmano Carvalho, Leticia Nogueira Feitosa, Antonio Cunha, Monica Machado Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes Neves, Rafael Xavier-Neto, Antonio Pedro Vargas, Reinaldo Issao Takata, Julia Filardi Paim, and Mariz Vainzof. Central core disease: facial weakness differentiating biallelic from monoallelic forms. Genes, 13:760, Apr 2022. URL: https://doi.org/10.3390/genes13050760, doi:10.3390/genes13050760. This article has 6 citations.

13. (raga2024treatmentsforryr1relateddisorders pages 12-13): S Raga, N Voermans, I Perez-Neri, and J Dowling. Treatmentsfor ryr1-related disorders (protocol). Unknown journal, 2024.

14. (cotta2022centralcoredisease media ead0977b): Ana Cotta, Lucas Santos Souza, Elmano Carvalho, Leticia Nogueira Feitosa, Antonio Cunha, Monica Machado Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes Neves, Rafael Xavier-Neto, Antonio Pedro Vargas, Reinaldo Issao Takata, Julia Filardi Paim, and Mariz Vainzof. Central core disease: facial weakness differentiating biallelic from monoallelic forms. Genes, 13:760, Apr 2022. URL: https://doi.org/10.3390/genes13050760, doi:10.3390/genes13050760. This article has 6 citations.

15. (lillis2012clinicalutilitygene pages 4-5): Suzanne Lillis, Stephen Abbs, Clemens R Mueller, Francesco Muntoni, and Heinz Jungbluth. Clinical utility gene card for: central core disease. European Journal of Human Genetics, 20:-, Oct 2012. URL: https://doi.org/10.1038/ejhg.2011.179, doi:10.1038/ejhg.2011.179. This article has 10 citations and is from a domain leading peer-reviewed journal.

16. (leao2020dominantorrecessive pages 2-3): Leonardo Galleni Leão, Lucas Santos Souza, L. Nogueira, R. Pavanello, J. Gurgel-Giannetti, U. Reed, A. Oliveira, T. Cuperman, A. Cotta, Julia FPaim, M. Zatz, and M. Vainzof. Dominant or recessive mutations in the ryr1 gene causing central core myopathy in brazilian patients. Acta Myologica, 39:274-282, Dec 2020. URL: https://doi.org/10.36185/2532-1900-030, doi:10.36185/2532-1900-030. This article has 5 citations and is from a peer-reviewed journal.

17. (cotta2022centralcoredisease pages 7-9): Ana Cotta, Lucas Santos Souza, Elmano Carvalho, Leticia Nogueira Feitosa, Antonio Cunha, Monica Machado Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes Neves, Rafael Xavier-Neto, Antonio Pedro Vargas, Reinaldo Issao Takata, Julia Filardi Paim, and Mariz Vainzof. Central core disease: facial weakness differentiating biallelic from monoallelic forms. Genes, 13:760, Apr 2022. URL: https://doi.org/10.3390/genes13050760, doi:10.3390/genes13050760. This article has 6 citations.

18. (lillis2012clinicalutilitygene pages 5-5): Suzanne Lillis, Stephen Abbs, Clemens R Mueller, Francesco Muntoni, and Heinz Jungbluth. Clinical utility gene card for: central core disease. European Journal of Human Genetics, 20:-, Oct 2012. URL: https://doi.org/10.1038/ejhg.2011.179, doi:10.1038/ejhg.2011.179. This article has 10 citations and is from a domain leading peer-reviewed journal.

19. (leao2020dominantorrecessive pages 1-2): Leonardo Galleni Leão, Lucas Santos Souza, L. Nogueira, R. Pavanello, J. Gurgel-Giannetti, U. Reed, A. Oliveira, T. Cuperman, A. Cotta, Julia FPaim, M. Zatz, and M. Vainzof. Dominant or recessive mutations in the ryr1 gene causing central core myopathy in brazilian patients. Acta Myologica, 39:274-282, Dec 2020. URL: https://doi.org/10.36185/2532-1900-030, doi:10.36185/2532-1900-030. This article has 5 citations and is from a peer-reviewed journal.

20. (rosenberg2015malignanthyperthermiaa pages 4-5): Henry Rosenberg, Neil Pollock, Anja Schiemann, Terasa Bulger, and Kathryn Stowell. Malignant hyperthermia: a review. Orphanet Journal of Rare Diseases, Aug 2015. URL: https://doi.org/10.1186/s13023-015-0310-1, doi:10.1186/s13023-015-0310-1. This article has 788 citations and is from a peer-reviewed journal.

21. (camp2024individualsandfamilies pages 13-15): Sanne A.J.H. van de Camp, Lizan Stinissen, Andrew Huseth, Brentney Simon, Jennifer Ryan, Anna Sarkozy, Filip Van Petegem, Michael F. Goldberg, Heinz Jungbluth, Johann Böhm, Wija Oortwijn, Robert T. Dirksen, and Nicol C. Voermans. Individuals and families affected by ryr1-related diseases: the patient/caregiver perspective. Journal of Neuromuscular Diseases, 11:1067-1083, Aug 2024. URL: https://doi.org/10.3233/jnd-240029, doi:10.3233/jnd-240029. This article has 2 citations and is from a peer-reviewed journal.

22. (camp2024individualsandfamilies pages 5-7): Sanne A.J.H. van de Camp, Lizan Stinissen, Andrew Huseth, Brentney Simon, Jennifer Ryan, Anna Sarkozy, Filip Van Petegem, Michael F. Goldberg, Heinz Jungbluth, Johann Böhm, Wija Oortwijn, Robert T. Dirksen, and Nicol C. Voermans. Individuals and families affected by ryr1-related diseases: the patient/caregiver perspective. Journal of Neuromuscular Diseases, 11:1067-1083, Aug 2024. URL: https://doi.org/10.3233/jnd-240029, doi:10.3233/jnd-240029. This article has 2 citations and is from a peer-reviewed journal.

23. (camp2024individualsandfamilies pages 1-3): Sanne A.J.H. van de Camp, Lizan Stinissen, Andrew Huseth, Brentney Simon, Jennifer Ryan, Anna Sarkozy, Filip Van Petegem, Michael F. Goldberg, Heinz Jungbluth, Johann Böhm, Wija Oortwijn, Robert T. Dirksen, and Nicol C. Voermans. Individuals and families affected by ryr1-related diseases: the patient/caregiver perspective. Journal of Neuromuscular Diseases, 11:1067-1083, Aug 2024. URL: https://doi.org/10.3233/jnd-240029, doi:10.3233/jnd-240029. This article has 2 citations and is from a peer-reviewed journal.

24. (raga2024treatmentsforryr1relateddisorders pages 13-15): S Raga, N Voermans, I Perez-Neri, and J Dowling. Treatmentsfor ryr1-related disorders (protocol). Unknown journal, 2024.

25. (schartner2019abnormalexcitationcontractioncoupling pages 4-6): Vanessa Schartner, Jocelyn Laporte, and Johann Böhm. Abnormal excitation-contraction coupling and calcium homeostasis in myopathies and cardiomyopathies. Journal of Neuromuscular Diseases, 6:289-305, Sep 2019. URL: https://doi.org/10.3233/jnd-180314, doi:10.3233/jnd-180314. This article has 24 citations and is from a peer-reviewed journal.

26. (parker2017functionalcharacterizationof pages 1-3): Remai Parker, Anja H. Schiemann, Elaine Langton, Terasa Bulger, Neil Pollock, Andrew Bjorksten, Robyn Gillies, David Hutchinson, Richard Roxburgh, and Kathryn M. Stowell. Functional characterization of c-terminal ryanodine receptor 1 variants associated with central core disease or malignant hyperthermia. Journal of Neuromuscular Diseases, 4:147-158, May 2017. URL: https://doi.org/10.3233/jnd-170210, doi:10.3233/jnd-170210. This article has 11 citations and is from a peer-reviewed journal.

27. (o’connor2023ryr1relateddiseasesinternational pages 14-16): Thomas N. O’Connor, L. R. van den Bersselaar, Y. Chen, Stefan Nicolau, Brentney Simon, Andrew Huseth, Joshua J. Todd, Filip Van Petegem, Anna Sarkozy, Michael F. Goldberg, N. Voermans, Robert T. Dirksen, Leslie Johann Carsten Oliver Razvan Robert James Michael Biesecker Böhm Bönnemann Clarke Cornea Dirksen Dow, Leslie Biesecker, Johann Böhm, Carsten G Bönnemann, Oliver Clarke, Razvan Cornea, Robert T. Dirksen, James Dowling, Michael F. Goldberg, Susan Hamilton, Drew Huseth, H. Jungbluth, Tokunbor A. Lawal, A. Marks, Isabelle Marty, L. Medne, Eva Michael, P. Mohassel, Takashi Murayama, S. Riazi, Anna Sarkozy, Brentney Simon, Joshua J. Todd, Jacques Tremblay, S. Treves, L. R. van den Bersselaar, Filip Van Petegem, N. Voermans, and N. Witting. Ryr-1-related diseases international research workshop: from mechanisms to treatments pittsburgh, pa, u.s.a., 21-22 july 2022. Journal of Neuromuscular Diseases, 10:135-154, Jan 2023. URL: https://doi.org/10.3233/jnd-221609, doi:10.3233/jnd-221609. This article has 10 citations and is from a peer-reviewed journal.

28. (amburgey2013genotypephenotypecorrelationsin pages 1-2): Kimberly Amburgey, Angela Bailey, Jean H Hwang, Mark A Tarnopolsky, Carsten G Bonnemann, Livija Medne, Katherine D Mathews, James Collins, Jasper R Daube, Gregory P Wellman, Brian Callaghan, Nigel F Clarke, and James J Dowling. Genotype-phenotype correlations in recessive ryr1-related myopathies. Orphanet Journal of Rare Diseases, 8:117-117, Aug 2013. URL: https://doi.org/10.1186/1750-1172-8-117, doi:10.1186/1750-1172-8-117. This article has 137 citations and is from a peer-reviewed journal.

29. (amburgey2013genotypephenotypecorrelationsin pages 10-11): Kimberly Amburgey, Angela Bailey, Jean H Hwang, Mark A Tarnopolsky, Carsten G Bonnemann, Livija Medne, Katherine D Mathews, James Collins, Jasper R Daube, Gregory P Wellman, Brian Callaghan, Nigel F Clarke, and James J Dowling. Genotype-phenotype correlations in recessive ryr1-related myopathies. Orphanet Journal of Rare Diseases, 8:117-117, Aug 2013. URL: https://doi.org/10.1186/1750-1172-8-117, doi:10.1186/1750-1172-8-117. This article has 137 citations and is from a peer-reviewed journal.

30. (chen2017reducedthresholdfor pages 1-3): Wenqian Chen, Andrea Koop, Yingjie Liu, Wenting Guo, Jinhong Wei, Ruiwu Wang, David H. MacLennan, Robert T. Dirksen, and Sui Rong Wayne Chen. Reduced threshold for store overload-induced ca2+ release is a common defect of ryr1 mutations associated with malignant hyperthermia and central core disease. The Biochemical journal, 474 16:2749-2761, Aug 2017. URL: https://doi.org/10.1042/bcj20170282, doi:10.1042/bcj20170282. This article has 36 citations.

31. (schartner2019abnormalexcitationcontractioncoupling pages 1-2): Vanessa Schartner, Jocelyn Laporte, and Johann Böhm. Abnormal excitation-contraction coupling and calcium homeostasis in myopathies and cardiomyopathies. Journal of Neuromuscular Diseases, 6:289-305, Sep 2019. URL: https://doi.org/10.3233/jnd-180314, doi:10.3233/jnd-180314. This article has 24 citations and is from a peer-reviewed journal.

32. (rosenberg2015malignanthyperthermiaa pages 6-8): Henry Rosenberg, Neil Pollock, Anja Schiemann, Terasa Bulger, and Kathryn Stowell. Malignant hyperthermia: a review. Orphanet Journal of Rare Diseases, Aug 2015. URL: https://doi.org/10.1186/s13023-015-0310-1, doi:10.1186/s13023-015-0310-1. This article has 788 citations and is from a peer-reviewed journal.

33. (lillis2012clinicalutilitygene pages 3-4): Suzanne Lillis, Stephen Abbs, Clemens R Mueller, Francesco Muntoni, and Heinz Jungbluth. Clinical utility gene card for: central core disease. European Journal of Human Genetics, 20:-, Oct 2012. URL: https://doi.org/10.1038/ejhg.2011.179, doi:10.1038/ejhg.2011.179. This article has 10 citations and is from a domain leading peer-reviewed journal.

34. (baba2024anestheticmanagementof pages 4-5): Hiroko Baba, Ryo Wakabayashi, Hiroki Ichiyanagi, Aki Suzuki, and Nobukazu Sato. Anesthetic management of a patient with central core disease undergoing thoracoscopic lung resection: the importance of neuromuscular monitoring at the masseter muscle. Cureus, Jan 2024. URL: https://doi.org/10.7759/cureus.52456, doi:10.7759/cureus.52456. This article has 1 citations.

35. (o’connor2023ryr1relateddiseasesinternational pages 1-3): Thomas N. O’Connor, L. R. van den Bersselaar, Y. Chen, Stefan Nicolau, Brentney Simon, Andrew Huseth, Joshua J. Todd, Filip Van Petegem, Anna Sarkozy, Michael F. Goldberg, N. Voermans, Robert T. Dirksen, Leslie Johann Carsten Oliver Razvan Robert James Michael Biesecker Böhm Bönnemann Clarke Cornea Dirksen Dow, Leslie Biesecker, Johann Böhm, Carsten G Bönnemann, Oliver Clarke, Razvan Cornea, Robert T. Dirksen, James Dowling, Michael F. Goldberg, Susan Hamilton, Drew Huseth, H. Jungbluth, Tokunbor A. Lawal, A. Marks, Isabelle Marty, L. Medne, Eva Michael, P. Mohassel, Takashi Murayama, S. Riazi, Anna Sarkozy, Brentney Simon, Joshua J. Todd, Jacques Tremblay, S. Treves, L. R. van den Bersselaar, Filip Van Petegem, N. Voermans, and N. Witting. Ryr-1-related diseases international research workshop: from mechanisms to treatments pittsburgh, pa, u.s.a., 21-22 july 2022. Journal of Neuromuscular Diseases, 10:135-154, Jan 2023. URL: https://doi.org/10.3233/jnd-221609, doi:10.3233/jnd-221609. This article has 10 citations and is from a peer-reviewed journal.

36. (ziemian2025integrativeapproachesto pages 36-37): Maja Ziemian, Joanna Szmydtka, Wojciech Snoch, Sandra Milner, Szymon Wojciechowski, Aleksandra Dłuszczakowska, Jakub W. Chojnowski, Zofia Pallach, Katarzyna Żamojda, Grzegorz Węgrzyn, and Estera Rintz. Integrative approaches to myopathies and muscular dystrophies: molecular mechanisms, diagnostics, and future therapies. International Journal of Molecular Sciences, 26:7972, Aug 2025. URL: https://doi.org/10.3390/ijms26167972, doi:10.3390/ijms26167972. This article has 3 citations.

37. (o’connor2023ryr1relateddiseasesinternational pages 13-14): Thomas N. O’Connor, L. R. van den Bersselaar, Y. Chen, Stefan Nicolau, Brentney Simon, Andrew Huseth, Joshua J. Todd, Filip Van Petegem, Anna Sarkozy, Michael F. Goldberg, N. Voermans, Robert T. Dirksen, Leslie Johann Carsten Oliver Razvan Robert James Michael Biesecker Böhm Bönnemann Clarke Cornea Dirksen Dow, Leslie Biesecker, Johann Böhm, Carsten G Bönnemann, Oliver Clarke, Razvan Cornea, Robert T. Dirksen, James Dowling, Michael F. Goldberg, Susan Hamilton, Drew Huseth, H. Jungbluth, Tokunbor A. Lawal, A. Marks, Isabelle Marty, L. Medne, Eva Michael, P. Mohassel, Takashi Murayama, S. Riazi, Anna Sarkozy, Brentney Simon, Joshua J. Todd, Jacques Tremblay, S. Treves, L. R. van den Bersselaar, Filip Van Petegem, N. Voermans, and N. Witting. Ryr-1-related diseases international research workshop: from mechanisms to treatments pittsburgh, pa, u.s.a., 21-22 july 2022. Journal of Neuromuscular Diseases, 10:135-154, Jan 2023. URL: https://doi.org/10.3233/jnd-221609, doi:10.3233/jnd-221609. This article has 10 citations and is from a peer-reviewed journal.

38. (NCT04141670 chunk 2): S 48168 (ARM 210) for the Treatment of RYR1-related Myopathies (RYR1-RM). RyCarma Therapeutics, Inc.. 2020. ClinicalTrials.gov Identifier: NCT04141670

39. (baba2024anestheticmanagementof pages 5-5): Hiroko Baba, Ryo Wakabayashi, Hiroki Ichiyanagi, Aki Suzuki, and Nobukazu Sato. Anesthetic management of a patient with central core disease undergoing thoracoscopic lung resection: the importance of neuromuscular monitoring at the masseter muscle. Cureus, Jan 2024. URL: https://doi.org/10.7759/cureus.52456, doi:10.7759/cureus.52456. This article has 1 citations.

40. (o’connor2023ryr1relateddiseasesinternational pages 11-13): Thomas N. O’Connor, L. R. van den Bersselaar, Y. Chen, Stefan Nicolau, Brentney Simon, Andrew Huseth, Joshua J. Todd, Filip Van Petegem, Anna Sarkozy, Michael F. Goldberg, N. Voermans, Robert T. Dirksen, Leslie Johann Carsten Oliver Razvan Robert James Michael Biesecker Böhm Bönnemann Clarke Cornea Dirksen Dow, Leslie Biesecker, Johann Böhm, Carsten G Bönnemann, Oliver Clarke, Razvan Cornea, Robert T. Dirksen, James Dowling, Michael F. Goldberg, Susan Hamilton, Drew Huseth, H. Jungbluth, Tokunbor A. Lawal, A. Marks, Isabelle Marty, L. Medne, Eva Michael, P. Mohassel, Takashi Murayama, S. Riazi, Anna Sarkozy, Brentney Simon, Joshua J. Todd, Jacques Tremblay, S. Treves, L. R. van den Bersselaar, Filip Van Petegem, N. Voermans, and N. Witting. Ryr-1-related diseases international research workshop: from mechanisms to treatments pittsburgh, pa, u.s.a., 21-22 july 2022. Journal of Neuromuscular Diseases, 10:135-154, Jan 2023. URL: https://doi.org/10.3233/jnd-221609, doi:10.3233/jnd-221609. This article has 10 citations and is from a peer-reviewed journal.

41. (raga2024treatmentsforryr1relateddisorders pages 4-5): S Raga, N Voermans, I Perez-Neri, and J Dowling. Treatmentsfor ryr1-related disorders (protocol). Unknown journal, 2024.

42. (o’connor2023ryr1relateddiseasesinternational pages 8-10): Thomas N. O’Connor, L. R. van den Bersselaar, Y. Chen, Stefan Nicolau, Brentney Simon, Andrew Huseth, Joshua J. Todd, Filip Van Petegem, Anna Sarkozy, Michael F. Goldberg, N. Voermans, Robert T. Dirksen, Leslie Johann Carsten Oliver Razvan Robert James Michael Biesecker Böhm Bönnemann Clarke Cornea Dirksen Dow, Leslie Biesecker, Johann Böhm, Carsten G Bönnemann, Oliver Clarke, Razvan Cornea, Robert T. Dirksen, James Dowling, Michael F. Goldberg, Susan Hamilton, Drew Huseth, H. Jungbluth, Tokunbor A. Lawal, A. Marks, Isabelle Marty, L. Medne, Eva Michael, P. Mohassel, Takashi Murayama, S. Riazi, Anna Sarkozy, Brentney Simon, Joshua J. Todd, Jacques Tremblay, S. Treves, L. R. van den Bersselaar, Filip Van Petegem, N. Voermans, and N. Witting. Ryr-1-related diseases international research workshop: from mechanisms to treatments pittsburgh, pa, u.s.a., 21-22 july 2022. Journal of Neuromuscular Diseases, 10:135-154, Jan 2023. URL: https://doi.org/10.3233/jnd-221609, doi:10.3233/jnd-221609. This article has 10 citations and is from a peer-reviewed journal.

43. (godbout2023successfulcorrectionby pages 1-3): Kelly Godbout, Joël Rousseau, and Jacques P. Tremblay. Successful correction by prime editing of a mutation in the ryr1 gene responsible for a myopathy. Cells, 13:31, Dec 2023. URL: https://doi.org/10.3390/cells13010031, doi:10.3390/cells13010031. This article has 20 citations.

44. (o’connor2023ryr1relateddiseasesinternational pages 10-11): Thomas N. O’Connor, L. R. van den Bersselaar, Y. Chen, Stefan Nicolau, Brentney Simon, Andrew Huseth, Joshua J. Todd, Filip Van Petegem, Anna Sarkozy, Michael F. Goldberg, N. Voermans, Robert T. Dirksen, Leslie Johann Carsten Oliver Razvan Robert James Michael Biesecker Böhm Bönnemann Clarke Cornea Dirksen Dow, Leslie Biesecker, Johann Böhm, Carsten G Bönnemann, Oliver Clarke, Razvan Cornea, Robert T. Dirksen, James Dowling, Michael F. Goldberg, Susan Hamilton, Drew Huseth, H. Jungbluth, Tokunbor A. Lawal, A. Marks, Isabelle Marty, L. Medne, Eva Michael, P. Mohassel, Takashi Murayama, S. Riazi, Anna Sarkozy, Brentney Simon, Joshua J. Todd, Jacques Tremblay, S. Treves, L. R. van den Bersselaar, Filip Van Petegem, N. Voermans, and N. Witting. Ryr-1-related diseases international research workshop: from mechanisms to treatments pittsburgh, pa, u.s.a., 21-22 july 2022. Journal of Neuromuscular Diseases, 10:135-154, Jan 2023. URL: https://doi.org/10.3233/jnd-221609, doi:10.3233/jnd-221609. This article has 10 citations and is from a peer-reviewed journal.

45. (cacheux2015functionalcharacterizationof pages 1-3): Marine Cacheux, Ariane Blum, Muriel Sébastien, Anne Sophie Wozny, Julie Brocard, Kamel Mamchaoui, Vincent Mouly, Nathalie Roux-Buisson, John Rendu, Nicole Monnier, Renée Krivosic, Paul Allen, Arnaud Lacour, Joël Lunardi, Julien Fauré, and Isabelle Marty. Functional characterization of a central core disease ryr1 mutation (p.y4864h) associated with quantitative defect in ryr1 protein. Journal of Neuromuscular Diseases, 2:421-432, Nov 2015. URL: https://doi.org/10.3233/jnd-150073, doi:10.3233/jnd-150073. This article has 25 citations and is from a peer-reviewed journal.