Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.
case_report · Level V
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- Record sourced from PubMed, PMID 17339586.
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Abstract
Tropomyosin (TM), a sarcomeric thin-filament protein, plays an essential part in muscle contraction by regulating actin-myosin interaction. We describe two patients, a woman and her daughter, with muscle weakness and distal arthrogryposis (DA) type 2B, caused by a heterozygous missense mutation, R133W, in TPM2, the gene encoding beta-TM. Our results demonstrate the involvement of muscle dysfunction in the pathogenesis of DA and the fact that DA2B may be caused by mutations in TPM2.
Medical subject headings
- Arthrogryposis
- Muscle Weakness
- Mutation, Missense
- Tropomyosin