Author:
Sparkes Rebecca,Patton David,Bernier Francois
Abstract
Dilated cardiomyopathy as seen in children is clinically and genetically heterogeneous, with an increasing proportion of cases known to be caused by disorders of single genes. An autosomal recessive syndrome with a high incidence of dilated cardiomyopathy was recently described in the Canadian Dariusleut Hutterite population. It is caused by homozygous mutations in a novel gene, DNAJC19, presumed to play a role in importation of mitochondrial proteins. We discuss the cardiac features of this syndrome, and its relationship to cardiac mitochondrial function.
Publisher
Cambridge University Press (CUP)
Subject
Cardiology and Cardiovascular Medicine,General Medicine,Pediatrics, Perinatology, and Child Health
Cited by
37 articles.
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