Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (<i>MYH7</i>) Distal Myopathy

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (<i>MYH7</i>) 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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Hlavní autoři: Phillipa J. Lamont, William Wallefeld, David Hilton‐Jones, Bjarne Udd, Zohar Argov, Alexandru Barboi, Carsten Bönneman, Kym M. Boycott, Kate Bushby, Anne M. Connolly, Nicholas P. Davies, Alan H. Beggs, Gerald F. Cox, Jahannaz Dastgir, Elizabeth T. DeChene, Rebecca Gooding, Heinz Jungbluth, Nuria Muelas, Johanna Palmio, Sini Penttilä, Eric Schmedding, Tiina Suominen, Volker Straub, Christopher Staples, Peter Van den Bergh, Juan J. Vílchez, Kathryn R. Wagner, Patricia G. Wheeler, Elizabeth Wraige, Nigel G. Laing
Médium: Artigo
Jazyk:angličtina
Vydáno: 2014
On-line přístup:https://doi.org/10.1002/humu.22553
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https://doi.org/10.1002/humu.22553

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