RYR1-Related Myopathy: Comprehensive Disease-Characteristics Report

Executive summary

RYR1-related myopathy (RYR1-RM) is an umbrella term for inherited skeletal-muscle disorders caused by pathogenic germline variants in RYR1, which encodes the principal sarcoplasmic-reticulum Ca²⁺-release channel of skeletal muscle. The spectrum includes central core disease (CCD), multiminicore disease (MmD), core–rod myopathy, RYR1-related centronuclear myopathy, congenital fiber-type disproportion, congenital neuromuscular disease with uniform type-1 fibers, King–Denborough syndrome, exertional myalgia/rhabdomyolysis, atypical periodic paralysis, and late-onset axial myopathy. Dominant and recessive inheritance occur; recessive disease is generally earlier and more severe. No approved disease-modifying treatment exists, but genotype-aware supportive care, malignant-hyperthermia precautions, and early clinical development of the RyR1-stabilizing agent ARM210/S48168 are current real-world implementations. The best-supported causal chain is RYR1 variant → abnormal channel opening, impaired opening, or reduced protein abundance → defective excitation–contraction coupling and Ca²⁺ homeostasis → weakness/fatigue, with secondary mitochondrial and oxidative/nitrosative injury. (lawal2018ryanodinereceptor1related pages 1-2, beaufils2022therapiesforryr1related pages 1-2, beaufils2022therapiesforryr1related pages 7-8)

Table: This compact table summarizes the core knowledge-base elements for RYR1-related myopathy, including spectrum, mechanisms, diagnosis, epidemiology, management, trials, and models. It also flags where identifier mappings or quantitative estimates require external database verification.

1. Disease information

Definition and scope

RYR1-RM is best treated as a molecularly defined disease family, rather than one uniform clinicopathologic entity. Historically, classification depended on muscle-biopsy patterns; sequencing of the entire large RYR1 coding region has shown extensive overlap among biopsy patterns and clinical presentations. As Lawal and colleagues state in the abstract, “RYR1-RM are the most common class of congenital myopathies,” and the expanded spectrum is partly attributable to next-generation sequencing beyond historical hotspot testing. Published October 2018; DOI: https://doi.org/10.1007/s13311-018-00677-1. (lawal2018ryanodinereceptor1related pages 1-2)

Identifiers and synonyms

• Gene: RYR1; chromosome 19q13.2; 106 exons; protein 5,038 amino acids and approximately 565 kDa. (beaufils2022therapiesforryr1related pages 1-2)
• Common names: RYR1-related myopathy, ryanodine receptor 1-related myopathy, RYR1-related congenital myopathy, RYR1-RM.
• Relevant OMIM phenotypic entries: central core disease (OMIM 117000), malignant hyperthermia susceptibility 1 (OMIM 145600), and multiminicore disease with external ophthalmoplegia (OMIM 255320). These are subtype entries, not exact synonyms for the entire umbrella.
• MONDO: a single stable umbrella mapping could not be verified from the retrieved sources. A production knowledge base should map the umbrella to its constituent MONDO subtype records rather than assign an unverified ID.
• ICD: ICD-10/ICD-11 generally classify these under congenital myopathy/other specified myopathy and, separately, malignant hyperthermia; no retrieved source established one specific code encompassing the full RYR1-RM spectrum.
• MeSH: “Central Core Disease” and “Malignant Hyperthermia” are relevant subtype concepts; “RYR1-related myopathy” is not reliably represented as one umbrella descriptor in the evidence reviewed.

The information in this report is aggregated disease-level evidence from publications, registries, and ClinicalTrials.gov—not individual-patient EHR data.

2. Etiology, risk, protection, and gene–environment interaction

Primary cause

The cause is pathogenic germline RYR1 variation. Mechanistic classes include: (1) channel hyperactivity and resting SR Ca²⁺ leak; (2) reduced stimulus-coupled Ca²⁺ release or excitation–contraction uncoupling; and (3) reduced RyR1 abundance, particularly in some recessive genotypes. Approximately 400 variants had been reported by the 2022 therapeutic review, but this is not a current ClinVar count. (beaufils2022therapiesforryr1related pages 1-2, beaufils2022therapiesforryr1related pages 7-8)

Variants are predominantly missense, although nonsense, frameshift, splice-altering, in-frame indel, and structural/deep-intronic alleles occur. Clinical classification must be variant-specific under ACMG/AMP criteria; many rare RYR1 missense variants remain VUS because RYR1 is large and missense variation exists in reference populations. Pathogenic causal alleles are expected to be rare or absent in population databases, but no universal allele-frequency threshold is valid across dominant, recessive, and reduced-penetrance malignant-hyperthermia phenotypes.

Risk factors

• Genetic: one pathogenic dominant allele or biallelic pathogenic/hypomorphic alleles; family history of congenital myopathy, unexplained anesthesia reaction, heat illness, exertional rhabdomyolysis, or persistently raised CK.
• Environmental triggers: volatile anesthetics and succinylcholine can precipitate malignant hyperthermia in susceptible people. Heat, fever/pyrexia, and intense or prolonged exercise can precipitate myalgia, hyperCKemia, rhabdomyolysis, or heat illness. A 2024 review described 41 contracture- or genetically confirmed malignant-hyperthermia-susceptible individuals in whom intense exercise or pyrexia preceded reactions, supporting a continuum between anesthesia-triggered and non-anesthetic RYR1 disease. (moreno2024myopathicmanifestationsacross pages 4-5)
• Age and sex: both sexes and all ages are affected. No robust sex-specific causal risk was established in the retrieved evidence.
• Noncausal exposures: smoking, alcohol, diet, infection, pollution, and occupation are not established primary causes.

Protective factors

No reproducible human genetic protective allele is established. Practical environmental protection consists of avoiding trigger anesthetics, preventing dehydration/overheating, pacing exercise, promptly treating fever, and using individualized emergency plans. These reduce episodes but do not prevent inheritance or constitutive myopathy. Antioxidants are mechanistically plausible but are not proven preventive therapy.

3. Phenotypes

Clinical expression ranges from fetal hypokinesia and severe neonatal hypotonia to childhood weakness, apparently static congenital myopathy, episodic adult rhabdomyolysis, or late-onset axial weakness. Dominant CCD is often mild or slowly progressive; recessive disease more often includes generalized weakness, ophthalmoparesis, bulbar/respiratory involvement, scoliosis, and contractures. (lawal2018ryanodinereceptor1related pages 1-2)

In a mixed RYR1-rhabdomyolysis/MHS-myopathy population summarized in 2024, 48% had elevated CK and 81% had muscle abnormalities; these figures should not be generalized to every congenital subtype. (moreno2024myopathicmanifestationsacross pages 4-5)

Quality-of-life impact is dominated by fatigue, weakness, limited walking/endurance, pain/cramps, recurrent acute-care episodes, respiratory/orthopedic complications, and anxiety surrounding anesthesia and exertion. A longitudinal 6-minute-walk study found no significant change in total distance over six months but detected within-test fatigability, consistent with a stable/slowly progressive baseline plus activity-related performance decline. Robust EQ-5D, SF-36, survival, and subtype-specific frequency estimates remain limited.

4. Genetic and molecular information

RYR1 is the sole defining causal gene for this disease umbrella. RyR1 forms a homotetrameric channel in the terminal sarcoplasmic-reticulum membrane and interacts functionally with the voltage sensor CaV1.1/DHPR, FKBP12, calmodulin, triadin, calsequestrin, and related triadic proteins. (beaufils2022therapiesforryr1related pages 1-2)

Dominant alleles frequently produce channel gain of function/Ca²⁺ leak or altered gating and are associated with CCD, malignant-hyperthermia susceptibility, and exertional rhabdomyolysis. Recessive combinations can cause reduced protein expression, impaired channel activation, or mixed functional effects and generally produce more severe congenital disease. Both penetrance and expressivity are variable; malignant-hyperthermia penetrance is incomplete and exposure-dependent. No repeat-expansion mechanism, aneuploidy, recurrent translocation, or disease-defining somatic mutation is established.

Potential modifiers include other excitation–contraction-coupling and redox genes, but no modifier is sufficiently validated for routine prognostication. A 2024 candidate-locus study supports a threshold/polygenic model for malignant hyperthermia, but this remains supplementary rather than diagnostic. Disease-specific DNA-methylation, histone, or chromatin signatures are not validated clinically.

5. Environmental and lifestyle information

RYR1-RM is not infectious, toxic, or autoimmune in origin. The clinically important environment is trigger exposure: anesthetic agents, heat, fever, and intense exercise interact with abnormal channel gating. Sustained Ca²⁺ release increases ATP demand, heat production, contracture, acidosis, membrane injury, CK release, and—at extremes—rhabdomyolysis or malignant hyperthermia. Exercise is not categorically contraindicated; individualized moderate activity, cooling, hydration, and avoidance of exhaustive exertion are preferable to deconditioning.

6. Mechanism and pathophysiology

Causal chain

1. Upstream lesion: pathogenic RYR1 allele changes channel gating, stimulus coupling, folding/assembly, or abundance.
2. Primary cellular defect: excessive resting Ca²⁺ leak, insufficient depolarization-evoked Ca²⁺ release, or depleted functional channel at the triad.
3. Functional consequence: reduced myoplasmic Ca²⁺ transient and force generation causes weakness and fatigability; hyperactive channels confer heat, exercise, and anesthetic-triggered crises.
4. Downstream amplification: chronic Ca²⁺ disturbance increases mitochondrial workload and ROS/RNS; oxidative/nitrosative RyR1 modifications can further destabilize the channel.
5. Tissue pathology: focal sarcomeric/mitochondrial disorganization produces cores or minicores, fiber-type disproportion, central nuclei, muscle injury, atrophy, and secondary fibrosis.

Human myotubes showed a 26% ± 6.7% basal increase in mitochondrial ROS. Mutant zebrafish myofibers showed ROS fluorescence of 1,369.0 ± 73.1 versus 920.6 ± 114.4 AU in controls (P=0.001). NAC normalized oxidant measures and protected patient myotubes from oxidant-induced death, although preclinical improvement does not establish clinical efficacy. Dowling et al., April 2012; DOI: https://doi.org/10.1093/brain/aws036. (dowling2012oxidativestressand pages 11-12, dowling2012oxidativestressand pages 8-9, dowling2012oxidativestressand pages 12-12)

Suggested annotations: GO biological processes—skeletal-muscle contraction, excitation–contraction coupling, calcium-ion transmembrane transport, release of sequestered Ca²⁺ into cytosol, response to oxidative stress, mitochondrial ATP synthesis; GO cellular components—sarcoplasmic-reticulum membrane, terminal cisterna, T-tubule, calcium-release unit, mitochondrion; GO molecular function—ryanodine-sensitive calcium-release-channel activity. Cell Ontology: skeletal muscle fiber (CL:0000188), myoblast (CL:0000056), and skeletal-muscle satellite cell. Multi-omics evidence remains exploratory; no validated transcriptomic, proteomic, metabolomic, lipidomic, single-cell, or spatial diagnostic signature exists.

7. Anatomical structures affected

The primary organ is skeletal muscle (UBERON:0001134), particularly limb-girdle/proximal, axial, paraspinal, respiratory, facial, bulbar, and extraocular muscles depending on genotype. Relative rectus-femoris sparing has been reported as part of a recognizable MRI pattern, but imaging is not independently diagnostic. (lawal2018ryanodinereceptor1related pages 1-2)

At tissue/cell level, multinucleated skeletal myofibers and their triads are affected. Subcellular sites include the sarcoplasmic reticulum, terminal cisternae, T-tubules, RyR1–CaV1.1 calcium-release units, mitochondria, and downstream myofibrils. Weakness is usually bilateral and relatively symmetric; focal/asymmetric disease is atypical and should broaden the differential. The heart is generally spared because cardiac excitation–contraction coupling principally uses RYR2, although cardiac surveillance is appropriate when symptoms or alternative diagnoses warrant it. (beaufils2022therapiesforryr1related pages 1-2)

8. Temporal development

Onset may be prenatal, neonatal, childhood, or adult. Congenital disease is chronic and lifelong, commonly static or slowly progressive; severe recessive disease may progress through respiratory and orthopedic complications. Adult MHS-associated disease may begin with cramps/myalgia and evolve toward persistent symptoms and proximal lower-limb weakness. Rhabdomyolysis and malignant-hyperthermia episodes are acute superimposed events rather than conventional relapses. (moreno2024myopathicmanifestationsacross pages 4-5)

There is no formal staging system. Critical intervention windows are before anesthesia, during fever/heat exposure, after the first rhabdomyolysis episode, and early in respiratory or scoliosis progression. True remission is not expected because the genotype persists, although episodic symptoms can resolve and complications can be prevented.

9. Inheritance and population

Inheritance is autosomal dominant or autosomal recessive. Variable expressivity is pronounced, and penetrance—especially for malignant hyperthermia—is incomplete and exposure-dependent. Genetic anticipation is not established. Parental/germline mosaicism is possible in principle and should be considered when an apparently de novo variant recurs, but its population frequency is unknown. Consanguinity increases the probability of recessive disease. Founder variants exist in some populations, but no single ancestry defines RYR1-RM.

The frequently cited US pediatric point prevalence is approximately 1:90,000. This is probably an underestimate because mildly affected adults, MHS-only carriers, and previously biopsy-negative individuals may escape diagnosis. (lawal2018ryanodinereceptor1related pages 1-2, beaufils2022therapiesforryr1related pages 1-2)

The ongoing prevalence project NCT06791369 plans approximately 2,000 records from UK and Dutch specialist centers and includes congenital myopathy and malignant-hyperthermia subgroups; it uses retrospective 2011–2020 data and therefore is not yet a definitive population incidence study. https://clinicaltrials.gov/study/NCT06791369. (NCT06791369 chunk 3)

No reliable annual incidence, carrier frequency, sex ratio, or ethnicity-specific prevalence was established by the retrieved literature.

10. Diagnostics

Recommended pathway

1. Document congenital weakness/hypotonia, fatigability, axial or ocular involvement, rhabdomyolysis, anesthesia reactions, exercise/heat intolerance, and a three-generation pedigree.
2. Measure CK, renal function and urine myoglobin during episodes; baseline CK may be normal or mildly elevated. Obtain pulmonary function—sitting and supine FVC, maximal pressures, sleep assessment when indicated—and orthopedic evaluation.
3. Muscle MRI can identify selective involvement and guide biopsy but is supportive.
4. Perform a congenital-myopathy/rhabdomyolysis panel including full RYR1 coding and splice regions with deletion/duplication analysis. Single-gene RYR1 testing is suitable when phenotype/family variant is specific. WES or preferably WGS is useful after negative panel testing, particularly for structural, deep-intronic, or blended diagnoses.
5. Confirm segregation, phase recessive variants, review gnomAD/ClinVar, and apply ACMG/AMP criteria with phenotype and functional evidence.
6. Muscle biopsy is now adjunctive: central cores, multiple minicores, core–rod change, central nuclei, type-1 predominance/uniformity, or fiber-type disproportion are suggestive but neither necessary nor specific.

NGS is favored because hotspot-only analysis misses pathogenic variation and histology overlaps among RYR1-RM subtypes. (lawal2018ryanodinereceptor1related pages 1-2)

For malignant-hyperthermia risk, a pathogenic RYR1 variant may establish susceptibility; where genetics is negative or uncertain but clinical risk remains high, specialist in-vitro contracture testing may be considered. CMA, karyotype, FISH, mitochondrial-DNA analysis, and repeat-expansion testing are not first-line unless another diagnosis is suspected. RNA sequencing from muscle can resolve selected splice variants but is not routine screening.

Differential diagnosis: SELENON-related myopathy, ACTA1/NEB-related nemaline myopathy, MTM1/DNM2/BIN1/SPEG-associated centronuclear myopathy, CACNA1S-related channelopathy/MHS, STAC3-related Native American myopathy, TTN congenital myopathy, congenital muscular dystrophies, metabolic rhabdomyolysis disorders, mitochondrial myopathy, periodic paralysis, inflammatory myopathy, motor-neuron disease, and neuromuscular-junction disorders.

11. Outcomes and prognosis

Most mildly affected dominant patients retain ambulation and have near-normal life expectancy, but robust survival curves are unavailable. Morbidity is driven by fatigue, reduced endurance, pain, scoliosis/contractures, respiratory weakness, episodic rhabdomyolysis, and preventable malignant-hyperthermia crises. Severe neonatal recessive disease can be life-threatening through respiratory insufficiency and feeding/bulbar complications.

Prognostic factors include recessive inheritance, prenatal/neonatal onset, respiratory or bulbar involvement, severe scoliosis, recurrent rhabdomyolysis, and low functional baseline. Genotype alone has limited precision because allelic and intrafamilial expressivity is variable. No validated circulating prognostic biomarker exists; CK is an injury marker, not a reliable measure of chronic severity.

12. Treatment and current applications

Standard management

There is no FDA-approved disease-modifying treatment. Current care is multidisciplinary: individualized physiotherapy and moderate aerobic/strength activity, energy conservation, mobility/orthotic support, contracture prevention, scoliosis surveillance, respiratory monitoring and noninvasive ventilation/cough support where needed, swallowing/nutritional support, pain management, and renal monitoring during rhabdomyolysis. (lawal2018ryanodinereceptor1related pages 1-2, beaufils2022therapiesforryr1related pages 7-8)

All affected or potentially susceptible patients should carry an anesthesia alert. Trigger-free anesthesia, machine preparation, monitoring, and immediate dantrolene availability are practical standard implementations. Dantrolene is established for acute malignant hyperthermia; chronic oral use for myalgia/cramps remains off-label and limited by weakness, fatigue, and hepatotoxicity risk. Suggested NCIT concepts include Physical Therapy, Respiratory Support, Noninvasive Ventilation, Dantrolene, N-Acetylcysteine, Albuterol, Pyridostigmine, and Clinical Trial.

Investigational pharmacotherapy

• N-acetylcysteine (NAC): reduced oxidative stress and improved selected histological/motor measures in zebrafish and patient myotubes, but the subsequent randomized clinical program did not establish an approved therapy. Preclinical evidence must not be equated with clinical benefit. (dowling2012oxidativestressand pages 11-12, dowling2012oxidativestressand pages 8-9)
• Salbutamol/albuterol and pyridostigmine: small uncontrolled reports suggested symptomatic improvement in selected patients; evidence is insufficient for routine disease-modifying use. Pyridostigmine benefit in RYR1-centronuclear cases was reportedly nonsustained. (lawal2018ryanodinereceptor1related pages 11-12)
• AICAR: reduced Ca²⁺ leak/ROS-RNS and prevented heat-induced death in an RYR1 mouse model; preclinical only. (lawal2018ryanodinereceptor1related pages 11-12)
• ARM210/S48168 (surlorian): a Rycal designed to stabilize the RyR1 complex. Phase 1 NCT04141670 enrolled seven adults; the linked 2024 open-label dose-escalation publication is PMID 38318125. The study excluded FVC below 50% predicted and included pharmacokinetic and muscle-biopsy assessments. Small size and open-label design preclude definitive efficacy conclusions. https://clinicaltrials.gov/study/NCT04141670. (NCT04141670 chunk 2)
• Phase 2: NCT07560020, recruiting, placebo-controlled, planned n=28 adults with autosomal-dominant RYR1-RM. Its identifier indicates a post-2024 development and should not be presented as a 2024 result. https://clinicaltrials.gov/study/NCT07560020.
• Natural history: NCT06157268, recruiting observational study, planned n=100, studies congenital-myopathy fatigability. https://clinicaltrials.gov/study/NCT06157268.

Advanced therapy

Gene replacement is difficult because the approximately 15-kb RYR1 coding sequence exceeds conventional single-AAV capacity. Proposed approaches include dual-vector systems, allele-specific silencing, splice correction, CRISPR editing, transcriptional activation for hypomorphic alleles, and RNA delivery. As of the reviewed evidence, these remain preclinical; no RYR1 gene, RNA, or cell therapy is approved. The therapeutic review identifies five target levels: DNA correction, RNA/splicing correction, protein folding/SR stress, triadic Ca²⁺ leak, and ROS/RNS regulation. (beaufils2022therapiesforryr1related pages 7-8)

13. Prevention

• Primary: inherited disease itself cannot presently be prevented after conception. Genetic counseling, carrier/partner testing in recessive families, prenatal diagnosis, and preimplantation genetic testing are reproductive options after familial variants are established.
• Secondary: cascade testing of relatives; early pulmonary, orthopedic, swallowing and functional assessment; specialist evaluation after unexplained heat illness, rhabdomyolysis, or anesthesia reaction. No population newborn screening is available.
• Tertiary: trigger-free anesthesia, emergency dantrolene access, heat/exertion plans, hydration, fever management, gradual conditioning, avoidance of prolonged immobilization, and surveillance for respiratory/scoliosis complications.
• Vaccination: no disease-specific vaccine; routine vaccination and prompt infection management may indirectly reduce fever- and respiratory-related complications.

14. Other species and natural disease

The clearest naturally occurring comparative disease is porcine malignant-hyperthermia/porcine stress syndrome caused by RYR1 variation in domestic pig (Sus scrofa, NCBI Taxon 9823). It reproduces stress/anesthetic-triggered Ca²⁺ dysregulation, hypermetabolism, rigidity, and meat-quality effects, but porcine inheritance and variant architecture do not reproduce the complete human congenital-myopathy spectrum. There is no zoonotic transmission.

Naturally occurring or breed-associated RYR1 phenotypes have also been reported in other domestic species, but exact OMIA/VBO mappings were not verified here and should be curated directly from those resources. The mechanism is evolutionarily conserved because RyR1-mediated skeletal-muscle Ca²⁺ release is conserved across vertebrates.

15. Model organisms and experimental systems

• Zebrafish: ryr1 mutant/knockdown models reproduce abnormal swimming, myofibrillar/SR pathology, Ca²⁺ dysfunction, and oxidative stress. They enabled NAC rescue experiments, but teleost paralogy and developmental physiology limit direct genotype–phenotype translation. (dowling2012oxidativestressand pages 11-12, dowling2012oxidativestressand pages 8-9, dowling2012oxidativestressand pages 1-1)
• Mouse: knock-in models such as Y522S/Y524S and other humanized alleles reproduce Ca²⁺ leak, heat/anesthetic susceptibility, oxidative/nitrosative stress, core development, and weakness. They are used for dantrolene, AICAR, Rycal, antioxidant, and gene-correction studies; many model one dominant allele and not severe recessive human disease. (lawal2018ryanodinereceptor1related pages 13-13, lawal2018ryanodinereceptor1related pages 11-12)
• Pig: a valuable large-animal model of malignant hyperthermia and anesthetic physiology, but less representative of multisystem developmental RYR1-RM.
• Patient myoblasts/myotubes: preserve human genotype and revealed increased mitochondrial ROS and oxidant vulnerability, but lack mature innervation, loading, and whole-body pharmacology. (dowling2012oxidativestressand pages 8-9)
• iPSC-derived and 3-D engineered muscle: promising for variant-specific Ca²⁺ and contractility assays, genome editing, and personalized drug testing. The retrieved detailed iPSC report was a 2026 preprint and therefore is excluded as established 2023–2024 evidence. (rossi2026advancedmodellingof pages 1-5)

Evidence appraisal and major gaps

The most authoritative recent source retrieved was the October 2024 British Journal of Anaesthesia review of adult myopathic manifestations in malignant-hyperthermia susceptibility (DOI: https://doi.org/10.1016/j.bja.2024.05.046). It strengthens recognition of chronic myalgia, cramps, later weakness, and heat/exercise-triggered rhabdomyolysis as part of an RYR1 continuum. (moreno2024myopathicmanifestationsacross pages 4-5)

Nevertheless, the knowledge base remains limited by heterogeneous subtype definitions, ascertainment through specialist centers, small natural-history cohorts, incomplete penetrance, and scarcity of randomized trials. Reliable annual incidence, carrier frequency, sex/ancestry effects, phenotype percentages by genotype, long-term survival, validated QoL norms, modifier genes, epigenetic signatures, and clinically actionable multi-omics biomarkers are not currently established. Expert interpretation therefore favors a molecular diagnosis plus individualized functional and trigger-risk assessment, rather than predicting outcome solely from biopsy label or variant location. (lawal2018ryanodinereceptor1related pages 11-12, beaufils2022therapiesforryr1related pages 7-8)

References

1. (lawal2018ryanodinereceptor1related pages 1-2): Tokunbor A. Lawal, Joshua J. Todd, and Katherine G. Meilleur. Ryanodine receptor 1-related myopathies: diagnostic and therapeutic approaches. Neurotherapeutics, 15:885-899, Oct 2018. URL: https://doi.org/10.1007/s13311-018-00677-1, doi:10.1007/s13311-018-00677-1. This article has 130 citations and is from a peer-reviewed journal.

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3. (beaufils2022therapiesforryr1related pages 7-8): Mathilde Beaufils, Lauriane Travard, John Rendu, and Isabelle Marty. Therapies for ryr1-related myopathies: where we stand and the perspectives. Jan 2022. URL: https://doi.org/10.2174/1389201022666210910102516, doi:10.2174/1389201022666210910102516. This article has 15 citations and is from a peer-reviewed journal.

4. (moreno2024myopathicmanifestationsacross pages 4-5): Carlos A. Ibarra Moreno, Helga C.A. Silva, Nicol C. Voermans, Heinz Jungbluth, Luuk R. van den Bersselaar, John Rendu, Agnieszka Cieniewicz, Philip M. Hopkins, and Sheila Riazi. Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review. British Journal of Anaesthesia, 133(4):759-767, Oct 2024. URL: https://doi.org/10.1016/j.bja.2024.05.046, doi:10.1016/j.bja.2024.05.046. This article has 10 citations and is from a highest quality peer-reviewed journal.

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6. (dowling2012oxidativestressand pages 8-9): James J. Dowling, Sandrine Arbogast, Junguk Hur, Darcee D. Nelson, Anna McEvoy, Trent Waugh, Isabelle Marty, Joel Lunardi, Susan V. Brooks, John Y. Kuwada, and Ana Ferreiro. Oxidative stress and successful antioxidant treatment in models of ryr1-related myopathy. Brain : a journal of neurology, 135 Pt 4:1115-27, Apr 2012. URL: https://doi.org/10.1093/brain/aws036, doi:10.1093/brain/aws036. This article has 102 citations.

7. (dowling2012oxidativestressand pages 12-12): James J. Dowling, Sandrine Arbogast, Junguk Hur, Darcee D. Nelson, Anna McEvoy, Trent Waugh, Isabelle Marty, Joel Lunardi, Susan V. Brooks, John Y. Kuwada, and Ana Ferreiro. Oxidative stress and successful antioxidant treatment in models of ryr1-related myopathy. Brain : a journal of neurology, 135 Pt 4:1115-27, Apr 2012. URL: https://doi.org/10.1093/brain/aws036, doi:10.1093/brain/aws036. This article has 102 citations.

8. (NCT06791369 chunk 3): The Prevalence of RYR1-related Disease. King's College London. 2025. ClinicalTrials.gov Identifier: NCT06791369

9. (lawal2018ryanodinereceptor1related pages 11-12): Tokunbor A. Lawal, Joshua J. Todd, and Katherine G. Meilleur. Ryanodine receptor 1-related myopathies: diagnostic and therapeutic approaches. Neurotherapeutics, 15:885-899, Oct 2018. URL: https://doi.org/10.1007/s13311-018-00677-1, doi:10.1007/s13311-018-00677-1. This article has 130 citations and is from a peer-reviewed journal.

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

11. (rossi2026advancedmodellingof pages 1-5): Lucia Rossi, SungWoo Choi, Isobel Terri Olden, Aude Biehler, Lyn Healy, Francesco Muntoni, Giovanni Baranello, Anna Sarkozy, Valentina Maria Lionello, and Francesco Saverio Tedesco. Advanced modelling of ryr1-related myopathies using human ips cells and 3d engineered skeletal muscles. Unknown journal, Aug 2026. URL: https://doi.org/10.21203/rs.3.rs-10606489/v1, doi:10.21203/rs.3.rs-10606489/v1.

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13. (lawal2018ryanodinereceptor1related pages 13-13): Tokunbor A. Lawal, Joshua J. Todd, and Katherine G. Meilleur. Ryanodine receptor 1-related myopathies: diagnostic and therapeutic approaches. Neurotherapeutics, 15:885-899, Oct 2018. URL: https://doi.org/10.1007/s13311-018-00677-1, doi:10.1007/s13311-018-00677-1. This article has 130 citations and is from a peer-reviewed journal.

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