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A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.

Abstract : 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.
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https://www.hal.inserm.fr/inserm-00381952
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Submitted on : Wednesday, July 8, 2009 - 5:36:00 PM
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Isabelle Pénisson-Besnier, Nicole Monnier, Annick Toutain, Frédéric Dubas, Nigel Laing. A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.. Neuromuscular Disorders, Elsevier, 2007, 17 (4), pp.330-7. ⟨10.1016/j.nmd.2007.01.017⟩. ⟨inserm-00381952⟩

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