Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (<i>MYH7</i>) Distal Myopathy
Phillipa J. Lamont(Royal Perth Hospital), Nigel G. Laing(Harry Perkins Institute of Medical Research), Rebecca Gooding(Queen Elizabeth II Medical Centre), Volker Straub(Newcastle upon Tyne Hospitals NHS Foundation Trust), Patricia G. Wheeler(Nemours Children's Clinic), Alexandru Barboi(Rush University), Heinz Jungbluth(King's College London), Elizabeth Wraige(Nerve Centre), Jahannaz Dastgir(National Institute of Neurological Disorders and Stroke), Nuria Muelas(Hospital Universitari i Politècnic La Fe), Eric Schmedding(Universitair Ziekenhuis Brussel), Carsten Bönneman(National Institute of Neurological Disorders and Stroke), Tiina Suominen(Tampere University), Peter Van den Bergh(Cliniques Universitaires Saint-Luc), Johanna Palmio, Alan H. Beggs(Boston Children's Hospital), Kym M. Boycott(Children's Hospital of Eastern Ontario), Elizabeth T. DeChene(Boston Children's Hospital), Juan J. Vílchez(Universitat de València), Bjarne Udd(Tampere University Hospital), William Wallefeld(The University of Western Australia), Anne M. Connolly(Washington University in St. Louis), Nicholas P. Davies(Nerve Centre), Kate Bushby(Muscular Dystrophy UK), David Hilton‐Jones(John Radcliffe Hospital), Christopher Staples(Mater Adult Hospital), Kathryn R. Wagner(Kennedy Krieger Institute), Gerald F. Cox(Harvard University Press), Sini Penttilä(Tampere University), Zohar Argov(Hebrew University of Jerusalem)
Cited by 98
Related Papers
Genotype-Phenotype Correlation in the Long-QT Syndrome
|Circulation|2001|1.8k
Cost of disorders of the brain in Europe 2010
|European Neuropsychopharmacology|2011|1.7k
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
|Nature Genetics|2000|1.3k
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
|PubMed|1989|961
ACTN3 Genotype Is Associated with Human Elite Athletic Performance
|The American Journal of Human Genetics|2003|917