A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
- 1 January 1995
- journal article
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 9 (1), 75-79
- https://doi.org/10.1038/ng0195-75
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.Keywords
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