| H00656 | |
| H番号 | H00656 |
| 名称 | 肩甲腓骨型筋ジストロフィー |
| 概要 | Scapuloperoneal syndrome encompasses a heterogeneous group of neuromuscular disorders all characterized by slowly progressive weakness in the shoulder-girdle and peroneal muscles. Both neurogenic and myopathic scapuloperoneal syndromes exist, the latter being referred to as scapuloperoneal myopathy (SPM). Distinct subtypes of SPM are caused by mutations in the sarcomeric muscle proteins desmin and myosin heavy chain 7. The X-linked dominant form of SPM (XSPM) is caused by mutations in the FHL1 gene. |
| 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 | (SPMM) MYH7 [HSA:4625] [KO:K17751] (SCPNK) DES [HSA:1674] [KO:K07610] (SPM) 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: 8C70.5 ICD-10: G12.1 MeSH: C536624 OMIM: 181430 181400 300695 |
| 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:17336526 (MYH7) 著者 Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C タイトル MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. 雑誌 Neuromuscul Disord 17:321-9 (2007) DOI:10.1016/j.nmd.2007.01.010 PMID:17439987 (DES) 著者 Walter MC, Reilich P, Huebner A, Fischer D, Schroder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmuller H タイトル Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. 雑誌 Brain 130:1485-96 (2007) DOI:10.1093/brain/awm039 PMID:18179901 (FHL1) 著者 Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camano P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M タイトル X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. 雑誌 Am J Hum Genet 82:208-13 (2008) DOI:10.1016/j.ajhg.2007.09.013 |