
Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome
Keywords: Leigh syndrome; Mitochondria; NDUFV2; Complex I; Exome sequencingbp, base pair; In/Del, insertion/deletion; LHON, Leber's Hereditary Optic Neuropathy; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; MERFF, myocloni