Article
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Human mutation - 1 Jul 2014
Lamont Phillipa J, Wallefeld William, Hilton-Jones David, Udd Bjarne, Argov Zohar, Barboi Alexandru C, Bonneman Carsten, Boycott Kym M, Bushby Kate, Connolly Anne M, Davies Nicholas, Beggs Alan H, Cox Gerald F, Dastgir Jahannaz, DeChene Elizabeth T, Gooding Rebecca, Jungbluth Heinz, Muelas Nuria, Palmio Johanna, Penttilä Sini, Schmedding Eric, Suominen Tiina, Straub Volker, Staples Christopher, Van den Bergh Peter Y K, Vilchez Juan J, Wagner Kathryn R, Wheeler Patricia G, Wraige Elizabeth, Laing Nigel G
Abstract excerpt
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 MYH7, even in the same region of the gene, are not known. To explore the clinical spectrum and pathobiology, we...
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