Article

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.

Australian Neuromuscular Research Institute, Department of Pathology, University of Western Australia.
Nature Genetics (Impact Factor: 29.65). 02/1995; 9(1):75-9. DOI: 10.1038/ng0195-75
Source: PubMed

ABSTRACT Nemaline myopathies are diseases characterized by the presence in muscle fibres of pathognomonic rod bodies. These are composed largely of alpha-actinin and actin. We have identified a missense mutation in the alpha-tropomyosin gene, TPM3, which segregates completely with the disease in a family whose autosomal dominant nemaline myopathy we had previously localized to chromosome 1p13-q25. The mutation substitutes an arginine residue for a highly conserved methionine in a putative actin-binding site near the N terminus of the alpha-tropomyosin. The mutation may strengthen tropomyosin - actin binding, leading to rod body formation, by adding a further basic residue to the postulated actin-binding motif.

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Available from: Peter Blumbergs, Jun 26, 2014
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