Journal
NEUROMUSCULAR DISORDERS
Volume 20, Issue 7, Pages 464-466Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2010.05.012
Keywords
TPM3; Cap myopathy; Congenital fibre-type disproportion; Dominant negative disease
Categories
Funding
- NHMRC, Australia [206529, 571287, 505004, 403941]
- MDA of New South Wales
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We report a third patient with typical cap myopathy due to a heterozygous TPM3 mutation, confirming the importance of this causal association. The p.R168C TPM3 mutation we identified has been reported in two previous patients. The histological changes associated with this mutation vary widely from typical cap myopathy with near complete type 1 predominance (two patients), to typical congenital fibre-type disproportion without protein inclusions (one patient). We performed 20-gel electrophoresis using muscle biopsies from two patients with the p.R168C mutation and show that mutant protein accounts for around 50% of a-tropomyosinsio, in sarcomeres, consistent with a dominant negative mechanism of disease pathogenesis. 2010 Elsevier B.V. All rights reserved.
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