| H00657 | |
| H番号 | H00657 |
| 名称 | 還元体筋障害 |
| 概要 | 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. |
| カテゴリ | 神経系疾患; 筋骨格疾患 |
| ネットワーク | - |
| 病因遺伝子 | FHL1 [HSA:2273] [KO:K14365] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C72.Y ICD-10: G71.2 MeSH: C567468 C567469 OMIM: 300717 300718 |
| 文献 | PMID:21310615 著者 Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ タイトル Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features. 雑誌 Neuromuscul Disord 21:237-51 (2011) DOI:10.1016/j.nmd.2011.01.001 PMID:19171836 著者 Shalaby S, Hayashi YK, Nonaka I, Noguchi S, Nishino I タイトル Novel FHL1 mutations in fatal and benign reducing body myopathy. 雑誌 Neurology 72:375-6 (2009) DOI:10.1212/01.wnl.0000341311.84347.a0 |