| H00656 | |
| H number | H00656 |
| Name | Scapuloperoneal myopathy |
| Description | 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. |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | - |
| Gene | (SPMM) MYH7 [HSA:4625] [KO:K17751] (SCPNK) DES [HSA:1674] [KO:K07610] (SPM) FHL1 [HSA:2273] [KO:K14365] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C70.5 ICD-10: G12.1 MeSH: C536624 OMIM: 181430 181400 300695 |
| 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:17336526 (MYH7) AUTHORS Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C TITLE MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. JOURNAL Neuromuscul Disord 17:321-9 (2007) DOI:10.1016/j.nmd.2007.01.010 PMID:17439987 (DES) AUTHORS 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 TITLE Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P. JOURNAL Brain 130:1485-96 (2007) DOI:10.1093/brain/awm039 PMID:18179901 (FHL1) AUTHORS 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 TITLE X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. JOURNAL Am J Hum Genet 82:208-13 (2008) DOI:10.1016/j.ajhg.2007.09.013 |