New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.
Darin
N
N
Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden. niklas.darin@vgregion.se
Tajsharghi
H
H
Ostman-Smith
I
I
Gilljam
T
T
Oldfors
A
A
D024722:Cardiac Myosins / Q000737:chemistry / Q000235:genetics*; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D004252:DNA Mutational Analysis; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006321:Heart / Q000503:physiopathology*; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000235:genetics / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology*; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D020125:Mutation, Missense / Q000235:genetics*; D009206:Myocardium / Q000473:pathology; D018995:Myosin Heavy Chains / Q000737:chemistry / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D024723:Ventricular Myosins / Q000737:chemistry / Q000235:genetics
D005819:Genetic Markers; C501641:MYH7 protein, human; D020033:Protein Isoforms; D012333:RNA, Messenger; D024722:Cardiac Myosins; D024723:Ventricular Myosins; D018995:Myosin Heavy Chains