Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/β-cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy. The mechanisms by which different phenotypes are produced by mutations in...

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Main Authors: Lamont, P, Wallefeld, W, Hilton-Jones, D, Udd, B, Argov, Z, Barboi, A, Bonneman, C, Boycott, K, Bushby, K, Connolly, A, Davies, N, Beggs, A, Cox, G, Dastgir, J, DeChene, E, Gooding, R, Jungbluth, H, Muelas, N, Palmio, J, Penttilä, S, Schmedding, E, Suominen, T, Straub, V, Staples, C, Van den Bergh, P
格式: Journal article
語言:English
出版: 2014

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