Article
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.
Metabolic brain disease - 1 Apr 2021
Zehavi Yoav, Saada Ann, Jabaly-Habib Haneen, Dessau Moshe, Shaag Avraham, Elpeleg Orly, Spiegel Ronen
Abstract excerpt
Isolated defects in the mitochondrial respiratory chain complex II (CII; succinate-ubiquinone oxidoreductase) are extremely rare and mainly result from bi-allelic mutations in one of the nuclear encoded subunits: SDHA, SDHB and SDHD, which comprise CII and the assembly CII factor SDHAF1. We report an adolescent female who presented with global developmental delay, intellectual disability and childhood onset...
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