期刊
NEUROMUSCULAR DISORDERS
卷 20, 期 3, 页码 178-187出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2010.01.001
关键词
Desminopathy; Cardiomyopathy; Skeletal myopathy; Mitochondrial paracrystallin inclusions; Granulofilamentous material; Desmin mutation p.E114del
资金
- Association Francaise contre les Myopathies (AFM) [14039, 14040, ANR 06-MRAR-039-01]
- Assistance Publique - Hopitaux de Paris
Desmin myopathy is a heterogeneous neuromuscular disorder characterized by skeletal myopathy and cardiomyopathy, inherited mostly in an autosomal dominant pattern. We report a five generation Uruguayan family with severe cardiomyopathy and skeletal myopathy. Its most striking features are: atrial dilation, arrhythmia, conduction block and sudden death due to conduction impairment. Affected skeletal muscle shows alteration of mitochondria with paracrystallin inclusions and granulofilamentous material scattered in the muscle fibres. This family carries an unusual deletion p.E114del within the 1A rod domain of desmin. Transfected cells expressing the mutated desmin show punctuated and speckled cytoplasmic aggregates. The mutation causes a local conformational change in heptads a/d residues and charge positions. These findings lead to the hypothesis that coiled-coil interactions may be impaired, resulting in severe alterations in the desmin network. This is the first time that a mutation affecting this domain in the desmin molecule is described in a desminopathy. (c) 2010 Published by Elsevier B.V.
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