Myosin storage myopathy (MSM)
Evidence-based neurology checklist on myosin storage myopathy (msm): Genetics This is caused by mutations in the MYH7 gene on chromosome 14q The gene encodes slow skeletal/β-cardiac myosin heavy chain The transmission is usually autosomal dominant but it may rarely be recessive It is a protein…
Genetics
- This is caused by mutations in the MYH7 gene on chromosome 14q
- The gene encodes slow skeletal/β-cardiac myosin heavy chain
- The transmission is usually autosomal dominant but it may rarely be recessive
- It is a protein aggregate myopathy: a myosinopathy
- The onset is usually from birth to childhood but it may be in adulthood
MYH7 gene related disorders
Clinical patterns
Neurological features
Skeletal features
Systemic features
Muscle biopsy
Magnetic resonance imaging (MRI)
Treatment
Synonym
References
- Clarke NF, Amburgey K, Teener J, et al. A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscul Disord 2013; 23:432-436.
- Kiphuth IC, Neuen-Jacob E, Struffert T, et al. Myosin storage myopathy: a rare subtype of protein aggregate myopathies. Fortschr Neurol Psychiatr 2010; 78:219-222.
- Tajsharghi H, Oldfors A. Myosinopathies: pathology and mechanisms. Acta Neuropathol 2013; 125:3-18.
- Armel TZ, Leinwand LA. Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. Proc Natl Acad Sci U S A 2009; 106:6291-6296.
- Rafay MF, Halliday W, Bril V. Hyaline body myopathy: adulthood manifestations. Can J Neurol Sci 2005; 32:253-256.
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