Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing Early-Onset distal myopathy (MPD1)

Meredith, C., Herrmann, R., Parry, C., Liyanage, K., Dye, D.E., Durling, H.J., Duff, R.M., Beckman, K., de Visser, M., van der Graaff, M.M., Hedera, P., Fink, J.K., Petty, E.M., Lamont, P., Fabian, V., Bridges, L., Voit, T., Mastaglia, F.L. and Laing, N.G. (2004) Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing Early-Onset distal myopathy (MPD1). The American Journal of Human Genetics, 75 (4). pp. 703-708.

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...

Item Type:	Journal Article
Publisher:	Cell Press
Copyright:	© 2004 The American Society of Human Genetics.
URI:	http://researchrepository.murdoch.edu.au/id/eprint/25743

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