Please use this identifier to cite or link to this item: http://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
RMID: 0030005433
DOI: 10.1038/ng0195-75
Appears in Collections:Paediatrics publications

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