Mitochondrial diseases, caused by mutations in either the nuclear or mitochondrial genomes
(mtDNA), are the most common form of inherited neurometabolic disorders. They are
remarkably heterogeneous, both in their clinical presentation and genetic etiology,
presenting challenges for diagnosis, clinical management and elucidation of molecular
mechanism. The multifaceted nature of these diseases, compounded by the unique
characteristics of mitochondrial genetics, cement their space in the field of complex disease …