Myosin storage myopathy (MSM)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Myosin storage myopathy (MSM). This is caused by mutations in the MYH7 gene on chromosome 14q. Fully referenced neurology checklist.
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
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Clinical patterns
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Neurological features
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Skeletal features
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Systemic features
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Muscle biopsy
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Magnetic resonance imaging (MRI)
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Treatment
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Synonym
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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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