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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Principais autores: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Acesso em linha:https://doi.org/10.1002/humu.22553
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Internet

https://doi.org/10.1002/humu.22553

Registros relacionados