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

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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 cosegregating, 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

Metadaten
Author details:	M. Vorgerd, Peter F. M. vanderVen, V. Bruchertseifer, T. Lowe, R. A. Kley, Rolf Schröder, H. Lochmuller, Mirko Himmel, K. Koehler, Dieter Oswald Fürst, A. Huebner
ISSN:	0002-9297
Publication type:	Article
Language:	English
Year of first publication:	2005
Publication year:	2005
Release date:	2017/03/24
Source:	American Journal of Human Genetics. - ISSN 0002-9297. - 77 (2005), 2, S. 297 - 304
Organizational units:	Mathematisch-Naturwissenschaftliche Fakultät / Institut für Biochemie und Biologie
Peer review:	Referiert