Myosinopathy: genetic classification and phenotypes
Evidence-based neurology checklist on myosinopathy: genetic classification and phenotypes: Genetics These are caused by mutations in the myosin heavy chain (MYH7) gene The gene is on chromosome 14 The transmission is autosomal dominant or recessive There are four genetic types: MYH2, MYH3, MYH7…
Genetics
- These are caused by mutations in the myosin heavy chain (MYH7) gene
- The gene is on chromosome 14
- The transmission is autosomal dominant or recessive
- There are four genetic types: MYH2, MYH3, MYH7 and MYH8
MYH2 phenotype
MYH3 phenotypes
MYH8 phenotype
MH7 phenotypes
References
- Laing NG, Ceuterick-de Groote C, Dye DE, et al. Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. Neurology 2005; 64:527-529.
- Oldfors A. Hereditary myosin myopathies. Neuromuscul Disord 2007; 17:355-367.
- Tajsharghi H, Oldfors A. Myosinopathies: pathology and mechanisms. Acta Neuropathol 2013; 125:3-18.
- Romero NB, Xie T, Malfatti E, et al. Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene. JNNP 2014; 85:1149-1152.
- 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.
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