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Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)
We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM region of chromosome 14. One candidate gene in the region, MYH7, which is mutated in cardiomyopathy and myosin storage myopathy, codes for the myosin heavy chain of type I skeletal muscle fibers and cardiac ventricles. We have identified five novel heterozygous mutationsArg1500Pro, Lys1617del, Ala1663Pro, Leu1706Pro, and Lys1729del in exons 32, 34, 35, and 36 of MYH7in six families with early-onset distal myopathy. All five mutations are predicted, by in silico analysis, to locally disrupt the ability of the myosin tail to form the coiled coil, which is its normal structure. These findings demonstrate that heterozygous mutations toward the 3 end of MYH7 cause Laing-type early-onset distal myopathy. MYH7 is the fourth distal-myopathy gene to have been identified.
0002-9297
703-708
Meredith, Christopher
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Herrmann, Ralf
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Parry, Cheryl
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Liyanage, Khema
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Dye, Danielle E.
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Durling, Hayley J.
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Duff, Rachael M.
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Beckman, Kaye
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DeVisser, Marianne
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Vander Graaff, Maaike M.
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Hedera, Peter
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Fink, John K.
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Petty, Elizabeth M.
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Lamont, Phillipa
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Fabian, Vicki
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Bridges, Leslie
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Voit, Thomas
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Mastaglia, Frank L.
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Laing, Nigel G.
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Meredith, Christopher
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Herrmann, Ralf
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Parry, Cheryl
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Liyanage, Khema
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Dye, Danielle E.
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Durling, Hayley J.
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Duff, Rachael M.
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Beckman, Kaye
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DeVisser, Marianne
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Vander Graaff, Maaike M.
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Hedera, Peter
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Fink, John K.
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Petty, Elizabeth M.
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Lamont, Phillipa
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Fabian, Vicki
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Bridges, Leslie
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Voit, Thomas
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Mastaglia, Frank L.
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Laing, Nigel G.
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Meredith, Christopher, Herrmann, Ralf, Parry, Cheryl, Liyanage, Khema, Dye, Danielle E., Durling, Hayley J., Duff, Rachael M., Beckman, Kaye, DeVisser, Marianne, Vander Graaff, Maaike M., Hedera, Peter, Fink, John K., Petty, Elizabeth M., Lamont, Phillipa, Fabian, Vicki, Bridges, Leslie, Voit, Thomas, Mastaglia, Frank L. and Laing, Nigel G. (2004) Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). American Journal of Human Genetics, 75 (4), 703-708. (doi:10.1086/424760).

Record type: Article

Abstract

We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM region of chromosome 14. One candidate gene in the region, MYH7, which is mutated in cardiomyopathy and myosin storage myopathy, codes for the myosin heavy chain of type I skeletal muscle fibers and cardiac ventricles. We have identified five novel heterozygous mutationsArg1500Pro, Lys1617del, Ala1663Pro, Leu1706Pro, and Lys1729del in exons 32, 34, 35, and 36 of MYH7in six families with early-onset distal myopathy. All five mutations are predicted, by in silico analysis, to locally disrupt the ability of the myosin tail to form the coiled coil, which is its normal structure. These findings demonstrate that heterozygous mutations toward the 3 end of MYH7 cause Laing-type early-onset distal myopathy. MYH7 is the fourth distal-myopathy gene to have been identified.

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Published date: October 2004

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Local EPrints ID: 27659
URI: http://eprints.soton.ac.uk/id/eprint/27659
ISSN: 0002-9297
PURE UUID: 5fda01bd-6ad5-49bf-ad0a-a82164ab98c9

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Date deposited: 27 Apr 2006
Last modified: 15 Mar 2024 07:20

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Contributors

Author: Christopher Meredith
Author: Ralf Herrmann
Author: Cheryl Parry
Author: Khema Liyanage
Author: Danielle E. Dye
Author: Hayley J. Durling
Author: Rachael M. Duff
Author: Kaye Beckman
Author: Marianne DeVisser
Author: Maaike M. Vander Graaff
Author: Peter Hedera
Author: John K. Fink
Author: Elizabeth M. Petty
Author: Phillipa Lamont
Author: Vicki Fabian
Author: Leslie Bridges
Author: Thomas Voit
Author: Frank L. Mastaglia
Author: Nigel G. Laing

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