Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/7730
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Type: Journal article
Title: A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
Other Titles: A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
Author: Laing, N.
Wilton, S.
Akkari, P.
Dorosz, S.
Boundy, K.
Kneebone, C.
Blumbergs, P.
White, S.
Watkins, H.
Love, D.
Haan, E.
Citation: Nature Genetics, 1995; 9(1):75-79
Publisher: Nature America, Inc.
Issue Date: 1995
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
Nigel G. Laing, Stephen D. Wilton, Patrick A. Akkari, Shellie Dorosz, Karyn Boundy, Chris Kneebone, Peter Blumbergs, Sue White, Hugh Watkins, Donald R. Love and Eric Haan
Abstract: Nemaline myopathies are diseases characterized by the presence in muscle fibres of pathognomonic rod bodies. These are composed largely of −actinin and actin. We have identified a missense mutation in the −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 −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: Chromosomes, Human, Pair 1
Humans
Myopathies, Nemaline
Tropomyosin
DNA
DNA Primers
Pedigree
DNA Mutational Analysis
Amino Acid Sequence
Base Sequence
Genes, Dominant
Point Mutation
Polymorphism, Genetic
Exons
Molecular Sequence Data
Female
Male
Genetic Linkage
Rights: Copyright ©1995 Nature Publishing Group
DOI: 10.1038/ng0195-75
Appears in Collections:Aurora harvest 4
Paediatrics publications

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