Al Tuwaijri et al. Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay. Mol Genet Genomic Med. 2022;10(8):e1969. PMID 35611801.
Al Teneiji et al. Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome. Pediatr Neurol. 2016;62:58-61.
Davey et al. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2006;43(5):385-393. PMID 16055927.
Machiraju et al. Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children. J Inherit Metab Dis. 2022;45(2):366-376. PMID 34580891.
Machiraju et al. SS-31 peptide reverses the mitochondrial fragmentation present in fibroblasts from patients with DCMA, a mitochondrial cardiomyopathy. Front Cardiovasc Med. 2019;6:167. PMID 31803760.
Greenway et al. Addition of digoxin improves cardiac function in children with the dilated cardiomyopathy with ataxia syndrome: a mitochondrial cardiomyopathy. Can J Cardiol. 2018;34(8):972-977. PMID 29887217.
Ojala et al. New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr Res. 2012;72(4):432-7. PMID 22797137.
Rohani et al. Reversible mitochondrial fragmentation in iPSC-derived cardiomyocytes from children with DCMA, a mitochondrial cardiomyopathy. Can J Cardiol. 2020;36(4):554-563. PMID 32046906.
Sparkes et al. Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein. Cardiol Young. 2007;17(2):215-7. PMID 17244376.
Ucar et al. Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome? JIMD Rep. 2017;35:39-45. PMID 27928778.
Wachowski-Dark et al. Mitochondrial protein homeostasis and cardiomyopathy. Int J Mol Sci. 2022;23(6):3353. PMID 35328774.