Ontology highlight
ABSTRACT:
SUBMITTER: Lamont PJ
PROVIDER: S-EPMC4112555 | biostudies-literature | 2014 Jul
REPOSITORIES: biostudies-literature
Lamont Phillipa J PJ Wallefeld William W Hilton-Jones David D Udd Bjarne B Argov Zohar Z Barboi Alexandru C AC Bonneman Carsten C Boycott Kym M KM Bushby Kate K Connolly Anne M AM Davies Nicholas N Beggs Alan H AH Cox Gerald F GF Dastgir Jahannaz J DeChene Elizabeth T ET Gooding Rebecca R Jungbluth Heinz H Muelas Nuria N Palmio Johanna J Penttilä Sini S Schmedding Eric E Suominen Tiina T Straub Volker V Staples Christopher C Van den Bergh Peter Y K PY Vilchez Juan J JJ Wagner Kathryn R KR Wheeler Patricia G PG Wraige Elizabeth E Laing Nigel G NG
Human mutation 20140521 7
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 To explore the clinical spectrum and pathobiology, we screened the MYH7 gene in 88 patients from 21 previously unpublished families presentin ...[more]