Myofibrillar Myopathy: Disease Characteristics Research Report

Executive summary

Myofibrillar myopathy (MFM) is not one molecular disease but a genetically heterogeneous group of inherited protein-aggregate myopathies. Its defining lesion is focal myofibrillar dissolution, usually beginning at the Z-disc, followed by accumulation of desmin, myotilin, αB-crystallin and other sarcomeric or protein-quality-control proteins. Skeletal muscle is invariably central, but cardiac muscle, respiratory muscles and peripheral nerves can also be affected. Clinical onset ranges from infancy to late adulthood, although classic DES-, FLNC- and MYOT-associated disease is commonly adult-onset and slowly progressive. No approved disease-modifying treatment exists; present implementation consists of molecular diagnosis, cardiac and respiratory surveillance, rehabilitation, assistive devices and treatment of organ-specific complications. (batonnetpichon2017myofibrillarmyopathiesnew pages 1-2, olive2021246thenmcinternational pages 1-6)

The following reusable ontology-oriented summary complements the narrative report. IDs marked “suggested” should be checked against the current source ontology before database ingestion.

Table: This compact table organizes key disease, gene, phenotype, mechanism, anatomy, diagnostic, and intervention facts for myofibrillar myopathy into a knowledge-base-friendly format. Suggested ontology mappings are included for rapid curation, but uncertain IDs should be validated against source ontologies before ingestion.

1. Disease information

Definition and classification

MFM is a histopathologic and mechanistic disease category characterized by myofibrillar degradation beginning around the Z-disc, pleomorphic sarcoplasmic inclusions, protein aggregation and, variably, rimmed vacuoles. The category overlaps distal myopathies, limb-girdle muscular dystrophies, hereditary myopathy with early respiratory failure and other protein-aggregate myopathies. Consequently, “MFM” may describe a biopsy pattern before a molecular subtype is known rather than a single etiologic diagnosis. (olive2021246thenmcinternational pages 6-10, olive2021246thenmcinternational pages 1-6)

A foundational review states directly: “Myofibrillar myopathies (MFMs) are muscular disorders involving proteins that play a role in the structure, maintenance processes and protein quality control mechanisms closely related to the Z-disc.” It further identifies “progressive disorganization of the interfibrillar network and protein aggregation” as shared pathology. (batonnetpichon2017myofibrillarmyopathiesnew pages 1-2)

Identifiers and synonyms

• MONDO: Myofibrillar myopathy is represented in MONDO, but the exact current parent-class ID should be validated through the live MONDO release before ingestion; individual molecular subtypes have separate records.
• OMIM: MFM is distributed across subtype records rather than represented adequately by one number. A commonly cited record is MFM1, OMIM 601419 for desmin-related MFM; other numbered MFM records correspond to CRYAB, MYOT, LDB3, FLNC, BAG3 and additional gene-specific diseases.
• Orphanet: Orphanet organizes MFM and several gene-defined subtypes as rare genetic myopathies; current ORPHA identifiers should likewise be resolved through the live API.
• ICD-10: no highly specific universal MFM code; cases are commonly captured under hereditary/progressive muscular dystrophy or other specified myopathy categories, depending on jurisdiction.
• ICD-11: classified within genetic/developmental disorders of muscle; exact extension coding should be jurisdictionally validated.
• MeSH: generally indexed through Myopathies, Structural, Congenital, Muscular Diseases, gene-specific terms, and pathology concepts rather than one perfectly specific heading.
• Synonyms: myofibrillar myopathies; MFM; desmin-related myopathy/desminopathy when DES-associated; αB-crystallinopathy; myotilinopathy; filamin-C myopathy/filaminopathy; ZASP-related myopathy; BAG3 myopathy; protein-aggregate myopathy.

The evidence summarized here is aggregated disease-level literature, not individual EHR data. Some statistics derive from retrospective patient cohorts or individual pedigrees.

2. Etiology, risk and protective factors

MFM is principally Mendelian. Pathogenic germline variants affect structural Z-disc/intermediate-filament proteins or proteins responsible for sarcomeric proteostasis. Classic genes are DES, CRYAB, MYOT, LDB3/ZASP, FLNC and BAG3. The broader MFM-like/protein-aggregate spectrum includes FHL1, TTN, DNAJB6, PLEC, ACTA1, HSPB8, PYROXD1, KY, and digenic SQSTM1–TIA1, among others. The expansion reflects genuine biological overlap and the fact that one gene can cause several pathologic phenotypes. (olive2021246thenmcinternational pages 6-10, batonnetpichon2017myofibrillarmyopathiesnew pages 1-2)

Most classic forms are autosomal dominant with variable, often age-dependent penetrance and marked intrafamilial expressivity. Recessive, X-linked and digenic disorders occur in the broader spectrum. De novo dominant variants are particularly important in severe childhood BAG3 disease. Variants include missense substitutions, small insertions/deletions, truncating and splice variants; the functional effect is gene- and domain-specific and may be dominant-negative, toxic gain-of-function, aggregation-prone or loss-of-function.

No reproducible environmental cause, infectious trigger, toxin, diet, smoking exposure or protective allele has been established for inherited MFM. Mechanical loading is biologically relevant because contraction repeatedly unfolds or damages Z-disc proteins, but ordinary exercise is not established as a primary cause. Excessive unaccustomed exercise may aggravate symptoms in an already vulnerable muscle; conversely, appropriately dosed rehabilitation may preserve function. Evidence for formal gene–environment interactions, validated protective variants, epigenetic risk states or specific diets is presently insufficient.

3. Phenotypes

The phenotype is genotype-dependent and cannot be summarized by one frequency. In two major cohorts summarized by the ENMC workshop, mean onset was 52 years in 82 Mayo Clinic patients and 42 years in 48 French patients. Childhood disease occurs, especially with BAG3, while TTN-related phenotypes can range from infancy through adulthood. (olive2021246thenmcinternational pages 6-10, luo2019characterizationofchinese pages 6-7, olive2021246thenmcinternational pages 1-6)

• Progressive muscle weakness: distal, proximal, limb-girdle, scapuloperoneal or mixed; axial and facial weakness can occur. Suggested HPO: HP:0001324, HP:0003701, HP:0002460, HP:0003323 and HP:0000204. Weakness impairs walking, stairs, rising, hand use and eventually independent activities.
• Cardiac disease: dilated, hypertrophic or restrictive cardiomyopathy; conduction block and ventricular arrhythmia; risk is particularly important in DES and BAG3 disease. Suggested HPO: HP:0001638, HP:0001644, HP:0001639, HP:0001723, HP:0001678. An older synthesis estimated cardiac complications in approximately 60–70% across selected MFM series and reported pacemaker/defibrillator implantation or transplantation in approximately 10%; these are referral-cohort estimates, not population rates. (batonnetpichon2017myofibrillarmyopathiesnew pages 1-2)
• Respiratory muscle weakness: restrictive ventilatory defect, nocturnal hypoventilation and respiratory failure; it may be disproportionate to limb weakness. Respiratory insufficiency and/or dysphagia were reported in approximately one-third in a historical synthesis. Suggested HPO: HP:0002093 and HP:0002091. (batonnetpichon2017myofibrillarmyopathiesnew pages 1-2)
• Peripheral neuropathy: motor or sensorimotor, frequently axonal, especially in BAG3 and some DES phenotypes. Suggested HPO: HP:0009830, HP:0003447 and HP:0007141. In one 18-person Chinese series, motor/sensorimotor axonopathy was the predominant neuropathy pattern. (luo2019characterizationofchinese pages 6-7)
• Bulbar/axial/orthopedic features: dysphagia (HP:0002015), dysphonia (HP:0001618), rigid spine, scoliosis (HP:0002650), contractures (HP:0001371), myalgia (HP:0003326), stiffness and occasional ophthalmoparesis (HP:0000602). (olive2005myotilinopathyrefiningthe pages 1-2, olive2021246thenmcinternational pages 1-6)
• Laboratory abnormalities: serum creatine kinase is often normal or mildly/moderately elevated and is neither sensitive nor specific. EMG is generally myopathic with irritability; nerve-conduction testing may disclose concomitant neuropathy. (olive2021246thenmcinternational pages 6-10)

Validated MFM-specific quality-of-life instruments and robust EQ-5D/SF-36 population estimates are lacking. The major burdens are progressive mobility loss, fatigue, ventilatory dependency, dysphagia and anxiety associated with arrhythmia or sudden-death risk.

4. Genetic and molecular information

The six canonical proteins occupy complementary roles: DES forms the extrasarcomeric intermediate-filament network; FLNC crosslinks actin and links Z-discs to membrane complexes; MYOT and LDB3/ZASP scaffold the Z-disc; CRYAB is a small heat-shock chaperone; and BAG3 coordinates chaperone-assisted selective autophagy. (batonnetpichon2017myofibrillarmyopathiesnew pages 1-2, wadmore2021theroleof pages 1-2)

Examples of informative genotype–phenotype relationships include adult-onset DES/FLNC/MYOT disease, childhood-onset severe BAG3 disease and TTN variants causing hereditary myopathy with early respiratory failure or MFM-like pathology. In myotilinopathy, onset in a 13-patient study ranged from 42 to 77 years, initially affecting distal or proximal legs and later upper limbs. (olive2005myotilinopathyrefiningthe pages 1-2)

A Japanese screen summarized by ENMC evaluated 297 cases from 288 families and found a causal variant in 89 cases (34%). TTN was most frequent among solved cases (18 cases), followed by VCP, DES and FHL1. This both demonstrates substantial locus heterogeneity and shows that many patients remain genetically unresolved. (olive2021246thenmcinternational pages 6-10)

Variant interpretation must be transcript- and domain-specific. Rare frequency in gnomAD is necessary but not sufficient; segregation, phenotype, biopsy localization, functional evidence and ACMG/AMP criteria should be integrated. Population allele frequency cannot be supplied generically because it is variant-specific. The causal variants are overwhelmingly germline, not somatic. No recurrent chromosomal aneuploidy, translocation or epigenetic signature defines MFM. Modifier-gene and variant-load hypotheses are plausible, but no modifier is sufficiently validated for routine clinical prediction.

5. Environmental information

No infectious agent, radiation exposure, occupational toxin or lifestyle exposure is recognized as causal. Mechanical strain likely interacts with genetically impaired Z-disc maintenance and protein quality control, providing a biologically plausible but incompletely quantified gene–environment relationship. Smoking and obesity may worsen cardiopulmonary reserve but are nonspecific comorbidity modifiers. Vaccination, nutrition and moderate activity should follow general neuromuscular-care principles rather than MFM-specific evidence.

6. Mechanism and pathophysiology

The principal causal chain is:

pathogenic variant → unstable/misfolded or dysfunctional Z-disc/intermediate-filament protein → impaired sarcomeric force transmission and proteostasis → Z-disc streaming and myofibrillar dissolution → recruitment of chaperones, ubiquitin and structural proteins into aggregates → autophagic/UPS overload, mitochondrial and energetic dysfunction → myofiber degeneration, fibrosis and progressive weakness. Cardiac involvement follows an analogous chain in cardiomyocytes, with conduction-system disease or arrhythmogenic remodeling in susceptible genotypes. (olive2021246thenmcinternational pages 1-6, wadmore2021theroleof pages 1-2)

Upstream events are variant-dependent protein dysfunction and mechanical instability. Intermediate processes include protein misfolding, aggregate formation and failure of CASA/aggrephagy, involving BAG3, HSPB8/HSPA, DNAJB6, SQSTM1/p62 and autophagy machinery. Downstream lesions include vacuolization, mitochondrial injury, fiber loss and fibrosis. Suggested GO terms include Z-disc organization/sarcomere organization (GO:0045214), protein folding (GO:0006457), response to unfolded protein (GO:0006986), autophagy (GO:0006914), selective autophagy (GO:0061919), ubiquitin-dependent protein catabolism (GO:0006511), mitochondrial organization (GO:0007005) and oxidative phosphorylation (GO:0006119).

Proteomic work has shown that aggregates contain many proteins beyond the mutant protein, supporting a shared secondary aggregate proteome. However, disease-specific single-cell atlases, spatial transcriptomics, lipidomics and clinically validated metabolomic signatures remain sparse. Immune inflammation is not considered the initiating mechanism, although secondary inflammatory responses may accompany degeneration.

7. Anatomical structures affected

The primary site is skeletal muscle tissue (UBERON:0001134), involving skeletal myofibers (CL:0000188), often bilaterally but sometimes asymmetrically. Distribution varies by genotype and may emphasize distal lower limbs, proximal girdles, paraspinal muscles, neck, diaphragm (UBERON:0001103) or facial/bulbar musculature. Secondary/parallel targets are heart (UBERON:0000948), cardiomyocytes (CL:0000746), respiratory musculature and, in mixed phenotypes, peripheral nerves and Schwann cells.

Relevant subcellular compartments are Z-disc (GO:0030018), myofibril (GO:0030016), sarcomere (GO:0030017), intermediate filament (GO:0005882), protein-containing aggregate (GO:0061702), autophagosome (GO:0005776), lysosome (GO:0005764) and mitochondrion (GO:0005739).

8. Temporal development

The usual course is chronic, insidious and progressive. Adult-onset disease may advance over decades; severe childhood BAG3 disease can progress rapidly. Early stages feature focal distal or proximal weakness, cramps or exercise limitation. Intermediate disease brings generalized, axial or bulbar weakness and orthopedic deformity. Advanced disease may include loss of ambulation, ventilatory dependence, cardiomyopathy, conduction block or transplantation. Sustained spontaneous remission is not characteristic. Critical intervention windows are before irreversible respiratory decompensation or malignant arrhythmia, supporting surveillance from diagnosis rather than symptom-triggered testing alone. (olive2021246thenmcinternational pages 6-10, luo2019characterizationofchinese pages 6-7)

9. Inheritance and population

MFM is rare, but robust population prevalence and incidence per 100,000 are unavailable. Referral cohorts cannot establish population epidemiology. Both sexes are affected in autosomal disease; sex effects arise in X-linked FHL1-related disease. Most classic disease is autosomal dominant with variable, age-dependent penetrance; recessive and X-linked subtypes occur. Expressivity is markedly variable, even within families. Anticipation is not established. Germline mosaicism is theoretically possible in apparently de novo disease but is not a defining feature. Founder variants exist in individual populations, yet no universal carrier frequency can be stated.

10. Diagnostics

A practical workflow is:

1. Phenotyping: three-generation pedigree; distribution of weakness; CK; ECG, echocardiography and ambulatory rhythm monitoring; spirometry sitting and supine, maximal inspiratory pressure and sleep assessment; EMG/NCS.
2. Muscle MRI: identifies selective fatty replacement, guides biopsy and can support a genotype hypothesis.
3. Genomics: a comprehensive neuromuscular panel including canonical and overlap genes is generally first-line. Exome or genome sequencing is appropriate when panel testing is negative, with CNV analysis and periodic reanalysis. RNA sequencing from muscle may resolve splice variants. Standard karyotype, FISH and chromosomal microarray have low yield unless syndromic features suggest a structural disorder. Repeat-expansion and mitochondrial testing are differential-directed, not routine MFM tests.
4. Muscle biopsy: modified Gomori trichrome may show amorphous/hyaline inclusions and rimmed vacuoles; immunohistochemistry commonly demonstrates desmin, myotilin, αB-crystallin, ubiquitin/p62 and genotype-related proteins; electron microscopy shows Z-line streaming and granulofilamentous material. Biopsy can establish the pattern but cannot reliably identify the gene. (luo2019characterizationofchinese pages 6-7, olive2005myotilinopathyrefiningthe pages 1-2, olive2021246thenmcinternational pages 1-6)

Important differentials include sporadic inclusion-body myositis, immune-mediated necrotizing myopathy, Pompe disease, myotonic dystrophy, GNE myopathy, VCP multisystem proteinopathy, muscular dystrophies, nemaline/core myopathies, hereditary motor neuropathy and TTN-related hereditary myopathy with early respiratory failure.

Cascade genetic testing is appropriate after identification of a pathogenic familial variant. MFM is not included in routine newborn screening; prenatal or preimplantation testing is technically possible for a known familial pathogenic variant after counseling.

11. Outcome and prognosis

No reliable five- or ten-year survival estimate exists for MFM as a group. Prognosis depends on genotype, age at onset, respiratory involvement and cardiac phenotype. Cardiac conduction disease, ventricular arrhythmia, restrictive/dilated cardiomyopathy and respiratory failure are the major potentially fatal complications. DES and BAG3 disease may require pacing, defibrillation, ventilation or transplantation. In the 18-person Chinese cohort, 3 of 8 DES-associated patients required pacemakers, illustrating the clinical importance of rhythm surveillance. (luo2019characterizationofchinese pages 6-7)

Recovery of lost muscle is generally limited because the disease is degenerative. Rehabilitation may maintain function but does not reverse the molecular lesion. No validated circulating prognostic biomarker is established; genotype, serial pulmonary function, rhythm monitoring, ventricular function, ambulation and swallowing status remain the most actionable predictors.

12. Treatment and current implementation

There is no approved MFM-specific pharmacotherapy, gene therapy, ASO, siRNA or cell therapy. The 2017 review’s abstract stated plainly: “Currently no treatment is available.” Current care remains multidisciplinary and genotype-informed. (batonnetpichon2017myofibrillarmyopathiesnew pages 1-2)

• Physiotherapy and low-to-moderate individualized aerobic/strength activity, avoiding overwork injury; occupational therapy, orthoses, mobility aids and fall prevention. Suggested NCIt: Physical Therapy, Occupational Therapy, Orthotic Device and Assistive Device.
• Noninvasive ventilation, cough augmentation and vaccination/rapid treatment of respiratory infections when respiratory weakness develops. Suggested NCIt: Ventilatory Support.
• Guideline-directed cardiomyopathy therapy; pacemaker for conduction disease, ICD for arrhythmic risk and heart transplantation in selected end-stage cases. Suggested NCIt: Cardiac Pacing, Implantable Cardioverter Defibrillator Placement and Heart Transplantation. (olive2021246thenmcinternational pages 6-10, batonnetpichon2017myofibrillarmyopathiesnew pages 1-2)
• Swallowing assessment, texture modification, nutritional support and gastrostomy when necessary.
• Pain, contracture, scoliosis and psychosocial management.

No treatment-response percentage is defensible because controlled MFM therapeutic trials are lacking. Experimental directions include allele-selective silencing for dominant toxic variants, enhancement of CASA/autophagy, chemical chaperones, aggregate clearance and correction of mitochondrial dysfunction. Dominant-negative/toxic gain-of-function mechanisms make simple gene addition less suitable than for recessive loss-of-function disease. A 2024 authoritative review emphasizes RNA-interference and viral tools as increasingly plausible platforms for dominant muscle disorders, but MFM translation remains preclinical. (findlay2024dominantlyinheritedmuscle pages 8-9)

13. Prevention

Primary prevention is not possible after conception except through reproductive options. Genetic counseling should address autosomal-dominant 50% transmission risk where applicable, variable penetrance, de novo disease and subtype-specific inheritance. Preimplantation genetic testing or prenatal diagnosis can be offered for a confirmed familial pathogenic variant.

Secondary prevention comprises cascade testing and presymptomatic cardiac/respiratory surveillance. Tertiary prevention includes early ventilation, rhythm treatment, fall prevention, contracture management, aspiration precautions and rehabilitation. There is no disease-specific vaccine, prophylactic drug or population screening program.

14. Other species and natural disease

Orthologs of DES, FLNC, CRYAB, BAG3 and other MFM genes are deeply conserved across vertebrates and many invertebrates. Nevertheless, well-validated naturally occurring veterinary homologs are much less established than induced laboratory models, and MFM is not zoonotic or transmissible.

Commercial claims of equine “MFM” require particular caution. A 2023 Quarter Horse study found no MFM histopathology and no association of marketed MYOT/FLNC/MYOZ3 variants with PSSM2; therefore, these tests should not be extrapolated to human MFM or treated as validated natural-disease models.

15. Model organisms and advanced technologies

Mouse knock-in/transgenic models, zebrafish, Drosophila and cultured muscle systems reproduce varying combinations of aggregate formation, Z-disc disruption, weakness, cardiomyopathy and defective autophagy. They are useful for temporal mechanistic analysis and therapy screening, but overexpression models may exaggerate aggregate toxicity and rarely reproduce the full human age-dependent multisystem course. (batonnetpichon2017myofibrillarmyopathiesnew pages 1-2, olive2021246thenmcinternational pages 30-34)

Drosophila expression of disease-associated CRYAB variants produces myofibrillar disruption and cardiac abnormalities, supporting evolutionary conservation of sarcomeric proteostasis. Zebrafish provide rapid imaging of muscle architecture and have been used to study FLNC/BAG3-associated autophagy defects. Mouse DES/CRYAB models better approximate mammalian cardiac and skeletal physiology but differ in lifespan and loading.

Patient-derived and gene-edited induced-pluripotent-stem-cell cardiomyocytes are an important recent implementation. Human models permit isogenic comparison, contractility testing and mitochondrial phenotyping but remain developmentally immature. These systems are particularly valuable for variant-specific dominant disease and personalized therapeutic screening.

Recent developments and evidence limitations

The 2024 literature increasingly frames MFM as a convergence of mechanical Z-disc injury, dominant protein toxicity and failed proteostasis, rather than a passive storage disorder. Dominantly inherited FLNC disease was reviewed as typically adult-onset and slowly progressive, with grip weakness followed by ankle plantar-flexion weakness in a recognized phenotype. (findlay2024dominantlyinheritedmuscle pages 8-9)

The principal limitations are the absence of population registries, small genotype-specific cohorts, inconsistent historical use of “MFM,” incomplete molecular diagnosis and lack of randomized trials. Exact PMID metadata was not available for every retrieved source; DOI URLs and publication dates are therefore supplied below rather than inventing identifiers.

Key sources

• Olivé M, et al. 246th ENMC International Workshop: Protein aggregate myopathies. Neuromuscular Disorders. Published February 2021. https://doi.org/10.1016/j.nmd.2020.11.003 (olive2021246thenmcinternational pages 6-10, olive2021246thenmcinternational pages 1-6)
• Batonnet-Pichon S, et al. Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches. Journal of Neuromuscular Diseases. Published February 2017. https://doi.org/10.3233/JND-160203 (batonnetpichon2017myofibrillarmyopathiesnew pages 1-2)
• Wadmore K, et al. The Role of Z-disc Proteins in Myopathy and Cardiomyopathy. International Journal of Molecular Sciences. Published March 2021. https://doi.org/10.3390/ijms22063058 (wadmore2021theroleof pages 1-2)
• Olivé M, et al. Myotilinopathy: refining the clinical and myopathological phenotype. Brain. Published October 2005. https://doi.org/10.1093/brain/awh576 (olive2005myotilinopathyrefiningthe pages 1-2)
• Findlay AR. Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches. Disease Models & Mechanisms. Published October 2024. https://doi.org/10.1242/dmm.050720 (findlay2024dominantlyinheritedmuscle pages 8-9)

Knowledge-base interpretation: MFM should be represented as a parent protein-aggregate myopathy linked to gene-defined child diseases, not as one uniform Mendelian entity. Frequencies, inheritance, prognosis and surveillance should be attached to the molecular subtype whenever possible.

References

1. (batonnetpichon2017myofibrillarmyopathiesnew pages 1-2): Sabrina Batonnet-Pichon, Anthony Behin, Eva Cabet, Florence Delort, Patrick Vicart, and Alain Lilienbaum. Myofibrillar myopathies: new perspectives from animal models to potential therapeutic approaches. Journal of Neuromuscular Diseases, 4:1-15, Feb 2017. URL: https://doi.org/10.3233/jnd-160203, doi:10.3233/jnd-160203. This article has 55 citations and is from a peer-reviewed journal.

2. (olive2021246thenmcinternational pages 1-6): Montse Olivé, Lilli Winter, Dieter O. Fürst, Rolf Schröder, Anthony Behin, Alexandra Breukel, Matthias Brumhard, Robert Bryson-Richardson, Kristl Claeys, Ana Ferreiro, Dieter Fürst, Hans H. Goebel, Vandana Gupta, Rudolf Kley, Ami Mankodi, Satoru Noguchi, Anders Oldfors, Montse Olivé, Rolf Schröder, Duygu Selcen, Vincent Timmerman, Bjarne Udd, Maggie Walter, Conrad Weihl, Gerhard Wiche, and Lilly Winter. 246th enmc international workshop: protein aggregate myopathies 24–26 may 2019, hoofddorp, the netherlands. Neuromuscular Disorders, 31(2):158-166, Feb 2021. URL: https://doi.org/10.1016/j.nmd.2020.11.003, doi:10.1016/j.nmd.2020.11.003. This article has 14 citations and is from a peer-reviewed journal.

3. (olive2021246thenmcinternational pages 6-10): Montse Olivé, Lilli Winter, Dieter O. Fürst, Rolf Schröder, Anthony Behin, Alexandra Breukel, Matthias Brumhard, Robert Bryson-Richardson, Kristl Claeys, Ana Ferreiro, Dieter Fürst, Hans H. Goebel, Vandana Gupta, Rudolf Kley, Ami Mankodi, Satoru Noguchi, Anders Oldfors, Montse Olivé, Rolf Schröder, Duygu Selcen, Vincent Timmerman, Bjarne Udd, Maggie Walter, Conrad Weihl, Gerhard Wiche, and Lilly Winter. 246th enmc international workshop: protein aggregate myopathies 24–26 may 2019, hoofddorp, the netherlands. Neuromuscular Disorders, 31(2):158-166, Feb 2021. URL: https://doi.org/10.1016/j.nmd.2020.11.003, doi:10.1016/j.nmd.2020.11.003. This article has 14 citations and is from a peer-reviewed journal.

4. (luo2019characterizationofchinese pages 6-7): Yue-Bei Luo, Yuyao Peng, Yuling Lu, Qiuxiang Li, Huiqian Duan, Fangfang Bi, and Huan Yang. Characterization of chinese patients with myofibrillar myopathy from a single center: expanding the clinico-genetic spectrum. ArXiv, Nov 2019. URL: https://doi.org/10.21203/rs.2.17905/v1, doi:10.21203/rs.2.17905/v1. This article has 0 citations.

5. (olive2005myotilinopathyrefiningthe pages 1-2): Montse Olivé, Lev G. Goldfarb, Alexey Shatunov, Dirk Fischer, and Isidro Ferrer. Myotilinopathy: refining the clinical and myopathological phenotype. Brain : a journal of neurology, 128 Pt 10:2315-26, Oct 2005. URL: https://doi.org/10.1093/brain/awh576, doi:10.1093/brain/awh576. This article has 172 citations.

6. (wadmore2021theroleof pages 1-2): Kirsty Wadmore, Amar J. Azad, and Katja Gehmlich. The role of z-disc proteins in myopathy and cardiomyopathy. International Journal of Molecular Sciences, 22:3058, Mar 2021. URL: https://doi.org/10.3390/ijms22063058, doi:10.3390/ijms22063058. This article has 75 citations.

7. (findlay2024dominantlyinheritedmuscle pages 8-9): Andrew R. Findlay. Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches. Disease Models & Mechanisms, Oct 2024. URL: https://doi.org/10.1242/dmm.050720, doi:10.1242/dmm.050720. This article has 9 citations and is from a domain leading peer-reviewed journal.

8. (olive2021246thenmcinternational pages 30-34): Montse Olivé, Lilli Winter, Dieter O. Fürst, Rolf Schröder, Anthony Behin, Alexandra Breukel, Matthias Brumhard, Robert Bryson-Richardson, Kristl Claeys, Ana Ferreiro, Dieter Fürst, Hans H. Goebel, Vandana Gupta, Rudolf Kley, Ami Mankodi, Satoru Noguchi, Anders Oldfors, Montse Olivé, Rolf Schröder, Duygu Selcen, Vincent Timmerman, Bjarne Udd, Maggie Walter, Conrad Weihl, Gerhard Wiche, and Lilly Winter. 246th enmc international workshop: protein aggregate myopathies 24–26 may 2019, hoofddorp, the netherlands. Neuromuscular Disorders, 31(2):158-166, Feb 2021. URL: https://doi.org/10.1016/j.nmd.2020.11.003, doi:10.1016/j.nmd.2020.11.003. This article has 14 citations and is from a peer-reviewed journal.

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