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NEUROLOGY 2007;68:772-775
© 2007 American Academy of Neurology

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

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

From the Department of Pathology (H.T., A.O.), Division of Pediatric Cardiology (D.H.), and Department of Pediatrics (M.T.), Sahlgrenska University Hospital, Göteborg, Sweden; and Department of Neuropediatrics (E.K.), Uppsala University Children’s Hospital, Uppsala, Sweden.

Address correspondence and reprint requests to Dr. Homa Tajsharghi, Department of Pathology, Sahlgrenska University Hospital, SE-413 45 Göteborg, Sweden; e-mail: homa.tajsharghi{at}pathology.gu.se

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 ß-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.

Supported by the Swedish Research Council project no. 7122.

Disclosure: The authors report no conflicts of interest.

Received June 2, 2006. Accepted in final form November 8, 2006.




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