Mitochondrial diseases (MD) are the most common inherited metabolic disorders and show marked clinical and genetic heterogeneity. Despite widespread use of whole-exome (WES) and whole-genome sequencing (WGS), nearly half of patients remain without molecular diagnosis, partly due to difficulties in interpreting variants...
Lucile Riera-Navarro, Éléonore Birgy, S. Ait-El-Mkadem Saadi et al.· European Journal of Human Ge...· 0 citations
Despite major advances in the genetic diagnosis of mitochondrial disorders, effective disease-modifying therapies remain scarce. Here, we identify ebselen (EBS) as a promising therapeutic candidate through a phenotypic drug screen in a yeast model of Barth syndrome, a cardiomyopathy caused by defective cardiolipin matu...
Two siblings born to consanguineous parents who presented with neonatal hypotonia, respiratory failure, lactic acidosis and early death are described, establishing the pathogenicity of a splice-altering COX16 variant and expanding the genetic and phenotypic spectrum of COX16 -related mitochondrial disease.
Nicolas Geoffre, N. Gueguen, Anne-Sophie Guémann et al.· BMJ Connections Clinical Gen...· 0 citations
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