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Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.

Tajsharghi H., Kimber E., Holmgren D., Tulinius M., Oldfors A.

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.

Neurology 68:772-775(2007) [PubMed] [Europe PMC]

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