We report two children, born from consanguineous parents, who presented with early-onset refractory epilepsy associated with psychomotor delay, failure to thrive, blindness and deafness. Polarographic and spectrophotometric analyses in fibroblasts and liver revealed a respiratory chain (RC) dysfunction. Surprisingly, we identified a homozygous...
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2012 (v1)Journal articleUploaded on: December 4, 2022
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November 14, 2023 (v1)Publication
Abstract Mutations in the coiled-coil-helix-coiled-coil-helix domain containing 10 ( CHCHD10 ) gene have been associated with a large clinical spectrum including myopathy, cardiomyopathy and amyotrophic lateral sclerosis (ALS). Herein, we analyzed the metabolic changes induced by the p.S59L CHCHD10 mutation to identify new therapeutic...
Uploaded on: November 25, 2023 -
January 19, 2023 (v1)Journal article
Abstract Mutations in the coiled-coil-helix-coiled-coil-helix domain containing 10 ( CHCHD10 ) gene have been associated with a large clinical spectrum including myopathy, cardiomyopathy and amyotrophic lateral sclerosis (ALS). Herein, we analyzed the metabolic changes induced by the p.S59L CHCHD10 mutation to identify new therapeutic...
Uploaded on: November 25, 2023