A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.
Article Details
- CitationCopy to clipboard
Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, Blumbergs P, White S, Watkins H, Love DR, et al.
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.
Nat Genet. 1995 Jan;9(1):75-9.
- PubMed ID
- 7704029 [ View in 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.