Mutation of DNAJC19 a human homologue of yeast inner mitochondrial membrane co‐chaperones causes DCMA syndrome a novel autosomal recessive Barth syndrome‐like condition

摘要

BackgroundA novel autosomal recessive condition, dilated cardiomyopathy with ataxia (DCMA) syndrome, has been identified in the Canadian Dariusleut Hutterite population, characterised by early onset dilated cardiomyopathy with conduction defects, non‐progressive cerebellar ataxia, testicular dysgenesis, growth failure, and 3‐methylglutaconic aciduria.