Mitochondrial succinate dehydrogenase (SDH), also known as electron transport chain
(ETC) Complex II, is the only enzyme complex engaged in both oxidative phosphorylation …

Mitochondria are essential organelles for neuronal function and cell survival. Besides the
well-known bioenergetics, additional mitochondrial roles in calcium signaling, lipid …

Mitochondria is the cell's powerhouse. Mitochondrial disease refers to a group of clinically
heterogeneous disorders caused by dysfunction in the mitochondrial respiratory chain, often …

Welcome to the October issue of the European Journal of Human Genetics. This month we
say farewell to Clinical Utility Gene Cards. After discussion amongst the editorial board and …

The unique genetic make-up of genetically isolated communities, where otherwise rare
genetic founder variants may become enriched, allows the clinical relevance of these …