Journal
NEUROMUSCULAR DISORDERS
Volume 17, Issue 4, Pages 330-337Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2007.01.017
Keywords
nemaline myopathy; autosomal dominant; TPM3; clinical phenotype; variable histopathological phenotype; fibre-typing
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The slow alpha-tropomyosin (TPM3) gene has to date been associated with few cases of both dominant and recessive nemaline myopathies. We report the identification of a p.Arg167His mutation in a four-generation family presenting with a mild classical form of the disease. Clinically, there was no correlation between the age at presentation and the severity of the disease. The dominant-negative p.Arg167His mutation is a recurrent mutation, previously reported in one sporadic case. Histological studies showed discrepancy between the two reports. While a type II fibre predominance was described in the sporadic case, we observed an almost complete type I fibre predominance. This study emphasizes the variability in histopathological phenotypes seen with TPM3 mutations. (c) 2007 Elsevier B.V. All rights reserved.
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