A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy-Reference-Cited by-同舟云学术

A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy

Published:2005-08 Issue:2 Volume:77 Page:297-304
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro;Bär;Hum Mol Genet,2005

2. The many faces of filamin: a versatile molecular scaffold for cell motility and signalling;Feng;Nat Cell Biol,2004

3. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia;Fox;Neuron,1998

4. Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation;Gamez;Neurology,2001

5. Missense mutations in desmin associated with familial cardiac and skeletal myopathy;Goldfarb;Nat Genet,1998

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