A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: A clinical and pathological study
Copyright policy )A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: A clinical and pathological study
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.
- Inserm France
- Assistance Publique -Hopitaux De Paris France
- University of Western Australia Australia
- Grenoble Alpes University France
- Harry Perkins Institute of Medical Research Australia
Adult, Male, MESH: Mutation, MESH: Microscopy, Adolescent, Nemaline, MESH: Pedigree, 610, MESH: Tropomyosin, [SDV.GEN] Life Sciences [q-bio]/Genetics, Tropomyosin, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Arginine, Myopathies, Nemaline, Electron, MESH: Histidine, Microscopy, Electron, Transmission, Clinical phenotype, Transmission, Humans, Histidine, Muscle, Skeletal, Nemaline myopathy, MESH: Adolescent, Family Health, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Middle Aged, MESH: Muscle, MESH: Arginine, MESH: Adult, Skeletal, Middle Aged, MESH: Male, Pedigree, Autosomal dominant, TPM3, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Fibre-typing, Mutation, MESH: Family Health, Variable histopathological phenotype, Female, MESH: Myopathies, MESH: Female
Adult, Male, MESH: Mutation, MESH: Microscopy, Adolescent, Nemaline, MESH: Pedigree, 610, MESH: Tropomyosin, [SDV.GEN] Life Sciences [q-bio]/Genetics, Tropomyosin, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Arginine, Myopathies, Nemaline, Electron, MESH: Histidine, Microscopy, Electron, Transmission, Clinical phenotype, Transmission, Humans, Histidine, Muscle, Skeletal, Nemaline myopathy, MESH: Adolescent, Family Health, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Middle Aged, MESH: Muscle, MESH: Arginine, MESH: Adult, Skeletal, Middle Aged, MESH: Male, Pedigree, Autosomal dominant, TPM3, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Fibre-typing, Mutation, MESH: Family Health, Variable histopathological phenotype, Female, MESH: Myopathies, MESH: Female
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