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- Title
Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome.
- Authors
Papadopoulou-Legbelou, Kyriaki; Ntoumpara, Maria; Kavga, Maria; Kotanidou, Eleni P.; Papoulidis, Ioannis; Galli-Tsinopoulou, Assimina; Fotoulaki, Maria
- Abstract
Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the DNAJC19 gene. The disease has been described in detail in the Canadian Hutterite population, but a few sporadic cases with de novo mutations have been published worldwide. We describe a homozygous pathogenic variant in the DNAJC19 gene, diagnosed in Northern Greece, presenting with genital anomalies, growth failure, cardiomyopathy, and ataxia, but without increased urinary 3-methylglutaconic acid and additional presence of vitamin D disorders, hypercalciuria, and osteopenia. This case not only expands the clinical characteristics of 3-methylglutaconic aciduria type V (MGCA5) but also highlights the power of genetic analysis for detecting a diagnosis when the metabolic screen is negative.
- Subjects
GREECE; DILATED cardiomyopathy; GROWTH disorders; RECESSIVE genes; ATAXIA; SYNDROMES; VITAMIN D
- Publication
Case Reports in Genetics, 2024, p1
- ISSN
2090-6544
- Publication type
Case Study
- DOI
10.1155/2024/8860889