De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy
Copyright policy )De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy
We describe an atypical case of nemaline myopathy with an unusual distribution of muscle weakness who presented at 14 years of age with kyphoscoliosis. In this patient, we demonstrate heterozygosity for a de novo CGT-CAT (Arg167His) mutation in a constitutively expressed exon (exon 5) of slow alpha-tropomyosin (TPM3). This is the first mutation identified in a constitutively expressed exon of TPM3 in a nemaline myopathy patient, but is similar to recently described mutations in beta-tropomyosin (TPM2) associated with nemaline myopathy and mutations in fast alpha-tropomyosin (TPM1) which cause hypertrophic cardiomyopathy.
- Children's Hospital at Westmead Australia
- Ludwig-Maximilians-Universität München Germany
- Queen Elizabeth II Medical Centre Australia
- Pathologisches Institut Germany
- Royal Perth Hospital Australia
Adenosine Triphosphatases, Muscle Weakness, Adolescent, Genetic Carrier Screening, DNA Mutational Analysis, Muscle Fibers, Skeletal, Mutation, Missense, Exons, Tropomyosin, Arginine, Myopathies, Nemaline, Drosophila Proteins, Humans, Female, Histidine
Adenosine Triphosphatases, Muscle Weakness, Adolescent, Genetic Carrier Screening, DNA Mutational Analysis, Muscle Fibers, Skeletal, Mutation, Missense, Exons, Tropomyosin, Arginine, Myopathies, Nemaline, Drosophila Proteins, Humans, Female, Histidine
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