Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. - Inserm - Institut national de la santé et de la recherche médicale Access content directly
Journal Articles Neuromuscul Disord Year : 2010

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.

Abstract

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 2D-gel electrophoresis using muscle biopsies from two patients with the p.R168C mutation and show that mutant protein accounts for around 50% of alpha-tropomyosin(slow) in sarcomeres, consistent with a dominant negative mechanism of disease pathogenesis.
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inserm-00589053 , version 1 (13-07-2011)

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Leigh B. Waddell, Michaela Kreissl, Andrew J. Kornberg, Paul Kennedy, Catriona Mclean, et al.. Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.. Neuromuscul Disord, 2010, 20 (7), pp.464-6. ⟨10.1016/j.nmd.2010.05.012⟩. ⟨inserm-00589053⟩

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