| H00697 | |
| H番号 | H00697 |
| 名称 | 体位性筋収縮を伴うX連鎖ミオパチー |
| 概要 | X-linked myopathy with postural muscle atrophy (XMPMA) is characterized by the combined presentation of weakness and atrophy of postural muscles (scapuloperoneal weakness and bent spine) with a pseudoathletic phenotype where alternative muscle groups are hypertrophic. Linkage studies and haplotype analysis followed by direct gene sequencing have identified five mutations in the FHL1 gene in patients with XMPMA. |
| 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: 8C70.Y ICD-10: G71.0 MeSH: C567480 OMIM: 300696 |
| 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:20874719 著者 Shathasivam T, Kislinger T, Gramolini AO タイトル Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues. 雑誌 J Cell Mol Med 14:2702-20 (2010) DOI:10.1111/j.1582-4934.2010.01176.x |