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Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.ORCID iD: 0000-0001-8854-5213
Department of Neuropediatrics, Uppsala University Children's Hospital, Uppsala, Sweden.
Division of Pediatric Cardiology, Sahlgrenska University Hospital, Göteborg, Sweden.
Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden.
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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
American Academy of Neurology , 2007. Vol. 68, no 10, 772-775 p.
National Category
Neurology
Research subject
Medical sciences
Identifiers
URN: urn:nbn:se:his:diva-11972DOI: 10.1212/01.wnl.0000256339.40667.fbISI: 000244679900011PubMedID: 17339586Scopus ID: 2-s2.0-33947541830OAI: oai:DiVA.org:his-11972DiVA: diva2:907011
Available from: 2016-02-25 Created: 2016-02-25 Last updated: 2016-03-04Bibliographically approved

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