Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1969
Abstract: Dilated cardiomyopathy with ataxia syndrome (DCMA) or 3‐methylglutaconic aciduria type V is a rare global autosomal recessive mitochondrial syndrome that is clinically and genetically heterogeneous. It is characterized by early‐onset dilated cardiomyopathy and increased urinary… read more here.
Keywords: pathogenic mitochondrial; mitochondrial dnajc19; novel homozygous; dnajc19 ... See more keywords