The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age.
Havndrup
O
O
Department of Medicine B, The Heart Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
Bundgaard
H
H
Andersen
P S
PS
Larsen
L A
LA
Vuust
J
J
Kjeldsen
K
K
Christiansen
M
M
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000401:mortality; D002648:Child; D015331:Cohort Studies; D045647:DNA Glycosylases; D004252:DNA Mutational Analysis; D016757:Death, Sudden, Cardiac / Q000453:epidemiology / Q000209:etiology*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D008715:Methionine / Q000378:metabolism*; D018995:Myosin Heavy Chains / Q000235:genetics*; D009699:N-Glycosyl Hydrolases / Q000235:genetics; D024501:Nonmuscle Myosin Type IIB; D010375:Pedigree; D012306:Risk; D016019:Survival Analysis; D014633:Valine / Q000235:genetics*
D008715:Methionine; D045647:DNA Glycosylases; D009699:N-Glycosyl Hydrolases; C061738:mutY adenine glycosylase; D024501:Nonmuscle Myosin Type IIB; C103815:nonmuscle myosin type IIB heavy chain; D018995:Myosin Heavy Chains; D014633:Valine