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

Isabelle Pénisson-Besnier; Nicole Monnier; Annick Toutain; Frédéric Dubas; Nigel Laing

doi:10.1016/j.nmd.2007.01.017

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

Isabelle Pénisson-Besnier ^{1, 2, 3, *} Nicole Monnier ⁴ Annick Toutain ⁵ Frédéric Dubas ^{2, 3} Nigel Laing ^{6, 7}

* Auteur correspondant

1 Centre de Référence Maladies Neuromusculaires de l'Enfant et de l'Adulte, Nantes-Angers

2 Service de neurologie [Angers]

3 Département de Pathologie Cellulaire et Tissulaire

4 Canaux calciques , fonctions et pathologies

5 Service de génétique [Tours]

6 Centre for Medical Research

7 Neurogenetic Laboratory

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.

Keywords : Nemaline myopathy Autosomal dominant TPM3 Clinical phenotype Variable histopathological phenotype Fibre-typing

Type de document :

Article dans une revue

Neuromuscular Disorders, Elsevier, 2007, 17 (4), pp.330-7. 〈10.1016/j.nmd.2007.01.017〉

Domaine :

Sciences du Vivant [q-bio] / Génétique / Génétique humaine

Sciences du Vivant [q-bio] / Génétique

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http://www.hal.inserm.fr/inserm-00381952
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A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.

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

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