Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians

N Chami, R Tadros, F Lemarbre, KS Lo… - Canadian Journal of …, 2014 - Elsevier
Background Dilated cardiomyopathy (DCM) is a major cause of heart failure that may
require heart transplantation. Approximately one third of DCM cases are familial. Next-
generation DNA sequencing of large panels of candidate genes (ie, targeted sequencing) or
of the whole exome can rapidly and economically identify pathogenic mutations in familial
DCM. Methods We recruited 64 individuals from 26 DCM families followed at the Montreal
Heart Institute Cardiovascular Genetic Center and sequenced the whole exome of 44 …