Article
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.
Acta neuropathologica communications - 4 Sept 2020
Schuld Julia, Orfanos Zacharias, Chevessier Frédéric, Eggers Britta, Heil Lorena, Uszkoreit Julian, Unger Andreas, Kirfel Gregor, van der Ven Peter F M, Marcus Katrin, Linke Wolfgang A, Clemen Christoph S, Schröder Rolf, Fürst Dieter O
Abstract excerpt
Filamin C (FLNc) is mainly expressed in striated muscle cells where it localizes to Z-discs, myotendinous junctions and intercalated discs. Recent studies have revealed numerous mutations in the FLNC gene causing familial and sporadic myopathies and cardiomyopathies with marked clinical variability. The most frequent myopathic mutation, p.W2710X, which is associated with myofibrillar myopathy, deletes the...
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