Myosinopathy: genetic classification and phenotypes
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Myosinopathy: genetic classification and phenotypes. These are caused by mutations in the myosin heavy chain (MYH7) gene. The gene is on chromosome 14.
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
Locked: subscribe to see this section.
MYH3 phenotypes
Locked: subscribe to see this section.
MYH8 phenotype
Locked: subscribe to see this section.
MH7 phenotypes
Locked: subscribe to see this section.
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.
- And 5 more. Subscribe to see the full list
