Journal article
A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
Nature Genetics, Vol.9(1), pp.75-79
1995
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.
Details
- Title
- A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
- Authors/Creators
- N.G. Laing (Author/Creator)S.D. Wilton (Author/Creator)P.A. Akkari (Author/Creator)S. Dorosz (Author/Creator)K. Boundy (Author/Creator)C. Kneebone (Author/Creator)P. Blumbergs (Author/Creator)S. White (Author/Creator)H. Watkins (Author/Creator)D.R. Love (Author/Creator)E. Haan (Author/Creator)
- Publication Details
- Nature Genetics, Vol.9(1), pp.75-79
- Publisher
- Nature Publishing Group
- Identifiers
- 991005543030207891
- Copyright
- ©1995 Nature Publishing Group
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.96 Cell Biology
- 1.96.492 Myosin
- Web Of Science research areas
- Genetics & Heredity
- ESI research areas
- Molecular Biology & Genetics