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Article

Distal arthrogryposis and muscle weakness associated with a β-tropomyosin mutation

5 Mar 2007

Abstract excerpt

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...

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PMID: 17339586
DOI: 10.1212/01.wnl.0000256339.40667.fb

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