| H00657 | |
| H number | H00657 |
| Name | Reducing body myopathy |
| Description | Reducing body myopathy (RBM) is a rare, sometimes fatal, X-linked disorder characterized by progressive muscle weakness and the presence of intracytoplasmic aggregates in histological muscle sections which exert a reducing activity on nitro-blue tetrazolium (NBT) staining. The causative gene for RBM is FHL1 encoding four and a half LIM domains. |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | - |
| Gene | FHL1 [HSA:2273] [KO:K14365] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C72.Y ICD-10: G71.2 MeSH: C567468 C567469 OMIM: 300717 300718 |
| Reference | PMID:21310615 AUTHORS Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ TITLE Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features. JOURNAL Neuromuscul Disord 21:237-51 (2011) DOI:10.1016/j.nmd.2011.01.001 PMID:19171836 AUTHORS Shalaby S, Hayashi YK, Nonaka I, Noguchi S, Nishino I TITLE Novel FHL1 mutations in fatal and benign reducing body myopathy. JOURNAL Neurology 72:375-6 (2009) DOI:10.1212/01.wnl.0000341311.84347.a0 |