Article
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
European journal of human genetics : EJHG - 1 Oct 2011
Sarkozy Anna, Windpassinger Christian, Hudson Judith, Dougan Charlotte F, Lecky Bryan, Hilton-Jones David, Eagle Michelle, Charlton Richard, Barresi Rita, Lochmüller Hanns, Bushby Kate, Straub Volker
Abstract excerpt
Mutations in the four-and-a-half LIM domain 1 (FHL1) gene, which encodes a 280-amino-acid protein containing four LIM domains and a single zinc-finger domain in the N-terminal region, have been associated with a broad clinical spectrum of X-linked muscle diseases encompassing a variety of different phenotypes. Patients might present with a scapuloperoneal myopathy, a myopathy with postural muscle atrophy and...
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