Article
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
Brain : a journal of neurology - 1 Dec 2007
Kley Rudolf A, Hellenbroich Yorck, van der Ven Peter F M, Fürst Dieter O, Huebner Angela, Bruchertseifer Vera, Peters Sören A, Heyer Christoph M, Kirschner Janbernd, Schröder Rolf, Fischer Dirk, Müller Klaus, Tolksdorf Karen, Eger Katharina, Germing Alfried, Brodherr Turgut, Reum Conny, Walter Maggie C, Lochmüller Hanns, Ketelsen Uwe-Peter, Vorgerd Matthias
Abstract excerpt
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction and abnormal accumulation of several proteins within skeletal muscle fibres. We studied 31 patients from four German families to evaluate the phenotype of filaminopathy. All patients harboured the same p.W2710X mutation in FLNC. Haplotype analysis suggested a founder mutation...
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