Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay

Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay

Abstract Background 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 e...

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Bibliographic Details
Main Authors: Abeer Al Tuwaijri, Yusra Alyafee, Mashael Alharbi, Maryam Ballow, Mohammed Aldrees, Qamre Alam, Rola A. Sleiman, Muhammad Umair, Majid Alfadhel
Format: Article
Language:English
Published: Wiley 2022-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
3‐methylglutaconic aciduria
cardiolipin
dilated cardiomyopathy
DNAJC19
global developmental delay
homozygous
Online Access:https://doi.org/10.1002/mgg3.1969

Internet

https://doi.org/10.1002/mgg3.1969

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