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A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

ABSTRACT: Myofibrillar myopathy (MFM) is a human disease that is characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations. In an extended German pedigree with a novel form of MFM characterized by clinical features of a limb-girdle myopathy and morphological features of MFM, we identified a co-segregating, heterozygous nonsense mutation (8130G-->A; W2710X) in the filamin c gene (FLNC) on chromosome 7q32.1. The mutation is the first found in FLNC and is localized in the dimerization domain of filamin c. Functional studies showed that, in the truncated mutant protein, this domain has a disturbed secondary structure that leads to the inability to dimerize properly. As a consequence of this malfunction, the muscle fibers of our patients display massive cytoplasmic aggregates containing filamin c and several Z-disk-associated and sarcolemmal proteins.

SUBMITTER: Vorgerd M 

PROVIDER: S-EPMC1224531 | biostudies-literature | 2005 Aug

REPOSITORIES: biostudies-literature

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A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

Vorgerd Matthias M   van der Ven Peter F M PF   Bruchertseifer Vera V   Löwe Thomas T   Kley Rudolf A RA   Schröder Rolf R   Lochmüller Hanns H   Himmel Mirko M   Koehler Katrin K   Fürst Dieter O DO   Huebner Angela A  

American journal of human genetics 20050531 2

Myofibrillar myopathy (MFM) is a human disease that is characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations. In an extended German pedigree with a novel form of MFM characterized by clinical features of a limb-girdle myopathy and morphological features of MFM, we identified a co-segregating, heterozygous nonsense mutation (8130G-->A; W2710X) in the filamin c gene (FLNC) on chromosome 7q32.1. The mutation is the first found in FLNC and is localized in  ...[more]

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