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Journal articles
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.
Cited literature [12 references]
https://www.hal.inserm.fr/inserm-00381952
Contributor : Nathalie Roux-Buisson <>
Submitted on : Wednesday, July 8, 2009 - 5:36:00 PM
Last modification on : Friday, November 6, 2020 - 3:48:30 AM
Long-term archiving on: : Saturday, November 26, 2016 - 8:41:35 AM
Contributor : Nathalie Roux-Buisson <>
Submitted on : Wednesday, July 8, 2009 - 5:36:00 PM
Last modification on : Friday, November 6, 2020 - 3:48:30 AM
Long-term archiving on: : Saturday, November 26, 2016 - 8:41:35 AM