Article
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Brain : a journal of neurology - 1 Jan 2011
Hicks Debbie, Sarkozy Anna, Muelas Nuria, Köehler Katrin, Huebner Angela, Hudson Gavin, Chinnery Patrick F, Barresi Rita, Eagle Michelle, Polvikoski Tuomo, Bailey Geraldine, Miller James, Radunovic Aleksander, Hughes Paul J, Roberts Richard, Krause Sabine, Walter Maggie C, Laval Steven H, Straub Volker, Lochmüller Hanns, Bushby Kate
Abstract excerpt
The limb-girdle muscular dystrophies are a group of disorders with wide genetic and clinical heterogeneity. Recently, mutations in the ANO5 gene, which encodes a putative calcium-activated chloride channel belonging to the Anoctamin family of proteins, were identified in five families with one of two previously identified disorders, limb-girdle muscular dystrophy 2L and non-dysferlin Miyoshi muscular dystrophy....
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