| H00524 | |
| H番号 | H00524 |
| 名称 | 肩甲腓骨脊髄筋萎縮症 |
| 概要 | Scapuloperoneal spinal muscular atrophy (SPSMA) is one of the TRPV4-related diseases. They are a heterogeneous group of dominantly inherited disorders with muscle weakness. Mutations in TRPV4 have been linked to these disorders. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | TRPV4 [HSA:59341] [KO:K04973] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8B61.4 ICD-10: G12.1 OMIM: 181405 |
| 文献 | PMID:20505684 著者 Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S タイトル TRPV4-pathy, a novel channelopathy affecting diverse systems. 雑誌 J Hum Genet 55:400-2 (2010) DOI:10.1038/jhg.2010.37 PMID:21454511 著者 Fecto F, Shi Y, Huda R, Martina M, Siddique T, Deng HX タイトル Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies. 雑誌 J Biol Chem 286:17281-91 (2011) DOI:10.1074/jbc.M111.237685 PMID:20460441 著者 Zimon M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landoure G, Ludlow CL, Gaudet R, Houlden H, Reilly MM, Fischbeck KH, Sumner CJ, Timmerman V, Jordanova A, Jonghe PD タイトル Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. 雑誌 Brain 133:1798-809 (2010) DOI:10.1093/brain/awq109 |