Journal
NEUROMUSCULAR DISORDERS
Volume 19, Issue 5, Pages 348-351Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2009.03.003
Keywords
Cap myopathy; Tropomyosin; Congenital myopathy; Cardiomyopathy; Congenital fibre type disproportion; TPM2; Beta-tropomyosin
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Funding
- National Health and Medical Research Council, Australia [206529, 403941]
- Muscular Dystrophy Association of New South Wales (N.C. and K.N.).
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Cap disease or cap myopathy is a form of congenital myopathy in which peripheral, well-demarcated 'caps' of disorganised thin filaments are seen in muscle fibres. Mutation of the TPM2 gene, that encodes beta-tropomyosin, is the first reported genetic cause. In this paper, we describe a further case of cap disease due to a mutation in TPM2, confirming the importance of this genetic association. This is the first report of cardiac dysfunction due to a mutation in TPM2. Our patient has an identical TPM2 mutation to the first genetically diagnosed cap disease patient, a de novo heterozygous three base pair deletion that removes glutamic acid 139 from the centre of beta-tropomyosin (p.E139del). 2D-gel electrophoresis studies show that the shortened mutant protein incorporates into sarcomeric structures, where it likely imposes a dominant-negative effect to cause muscle weakness. (C) 2009 Elsevier B.V. All rights reserved.
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