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

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

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

Topics: QH426
Year: 2004
OAI identifier: oai:eprints.soton.ac.uk:27659
Provided by: e-Prints Soton
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