Article
Lower limb radiology of distal myopathy due to the S60F myotilin mutation.
European neurology - 1 Jan 2009
McNeill Alisdair, Birchall Daniel, Straub Volker, Goldfarb Lev, Reilich Peter, Walter Maggie C, Schramm Nicolai, Lochmüller Hanns, Chinnery Patrick F
Abstract excerpt
Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected. Precisely defining specific categories is a challenge because of overlapping clinical phenotypes, making it difficult to decide which of the many known causative genes to screen in individual cases. In this study we define the distinguishing...
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