Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health
Reference4 articles.
1. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition;Davey;J Med Genet,2006
2. DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitions to regulate cardiolipin remodeling;Richter-Dennerlein;Cell Metab,2014
3. New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies;Ojala;Pediatr Res,2012
4. Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein;Sparkes;Cardiol Young,2007
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1. Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome;Case Reports in Genetics;2024-01-20
2. Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes;Molecular Metabolism;2024-01
3. Long non-coding RNA DLX6-AS1 is the key mediator of glomerular podocyte injury and albuminuria in diabetic nephropathy by targeting the miR-346/GSK-3β signaling pathway;Cell Death & Disease;2023-02-28
4. Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay;Molecular Genetics & Genomic Medicine;2022-05-25
5. Mitochondrial Protein Homeostasis and Cardiomyopathy;International Journal of Molecular Sciences;2022-03-20
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