H00697 | |
H number | H00697 |
Name | X-linked myopathy with postural muscle atrophy |
Description | 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. |
Category | Nervous system disease; Musculoskeletal disease |
Network | - |
Gene | FHL1 [HSA:2273] [KO:K14365] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 8C70.Y ICD-10: G71.0 MeSH: C567480 OMIM: 300696 |
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:20874719 AUTHORS Shathasivam T, Kislinger T, Gramolini AO TITLE Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues. JOURNAL J Cell Mol Med 14:2702-20 (2010) DOI:10.1111/j.1582-4934.2010.01176.x |