Article
Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
Neuromuscular disorders : NMD - 1 Apr 2011
Cowling Belinda S, Cottle Denny L, Wilding Brendan R, D'Arcy Colleen E, Mitchell Christina A, McGrath Meagan J
Abstract excerpt
Mutations in the four and a half LIM protein 1 (FHL1) gene were recently identified as the cause of four distinct skeletal muscle diseases. Since the initial report outlining the first fhl1 mutation in 2008, over 25 different mutations have been identified in patients with reducing body myopathy, X-linked myopathy characterized by postural muscle atrophy, scapuloperoneal myopathy and Emery-Dreifuss muscular...
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