H01229 | |
H number | H01229 |
Name | Inclusion body myopathy 3 |
Description | Inclusion body myopathy 3 (IBM3) is an autosomal dominant myopathy associated with a heterozygous missense mutation in the myosin heavy chain (MyHC) IIa gene (MYH2), changing the highly conserved and negatively charged glutamate at position 706 to the positively charged lysine (E706K). This region is important for myosin functioning during muscle contraction, because it undergoes conformational changes during adenosine triphosphate (ATP) hydrolysis. Clinical characteristics include congenital joint contractures, a progressive course in adulthood, and external ophthalmoplegia. |
Category | Nervous system disease; Musculoskeletal disease |
Network | - |
Gene | MYH2 [HSA:4620] [KO:K24220] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 4A41.2 ICD-10: G71.8 MeSH: C538330 OMIM: 605637 |
Reference | PMID:11889243 AUTHORS Tajsharghi H, Thornell LE, Darin N, Martinsson T, Kyllerman M, Wahlstrom J, Oldfors A TITLE Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age. JOURNAL Neurology 58:780-6 (2002) DOI:10.1212/WNL.58.5.780 PMID:17434305 AUTHORS Oldfors A TITLE Hereditary myosin myopathies. JOURNAL Neuromuscul Disord 17:355-67 (2007) DOI:10.1016/j.nmd.2007.02.008 |