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Article

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

American journal of human genetics - 1 Aug 2005

Vorgerd Matthias, van der Ven Peter F M, Bruchertseifer Vera, Löwe Thomas, Kley Rudolf A, Schröder Rolf, Lochmüller Hanns, Himmel Mirko, Koehler Katrin, Fürst Dieter O, Huebner Angela

Abstract excerpt

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...

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Identifiers

PMID: 15929027
DOI: 10.1086/431959
PMCID: PMC1224531

Genes

FLNC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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