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Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
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2007 (English)In: Neurology, ISSN 0028-3878, E-ISSN 1526-632X, Vol. 68, no 10, 772-775 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2007. Vol. 68, no 10, 772-775 p.
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Medical and Health Sciences
URN: urn:nbn:se:uu:diva-145621DOI: 10.1212/01.wnl.0000256339.40667.fbISI: 000244679900011OAI: oai:DiVA.org:uu-145621DiVA: diva2:396465
Available from: 2011-02-10 Created: 2011-02-09 Last updated: 2011-02-10Bibliographically approved

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