Several human diseases have been associated with mutations in mitochondrial genes comprising a set of confirmed and reported mutations according to the MITOMAP database. An analysis of complete mitoge
Primary defects in mitochondrial function are implicated in over 100 diseases, and the list continues to grow. Yet the first mitochondrial defect--a myopathy--was demonstrated only 35 years ago. The f
ND = not determined, CSF = cerebrospinal fluid; CPEO = chronic progressive external opthalmoplagia, MELAS = Mitochondrial encephalopathy lactic acidosis and stroke like episodes. Normal range for CSF
In this table, all the maternally-inherited ASVs but M-11 harbored r.329_468del. The nucleotide numbering was based on SLC25A13 cDNA sequence (GenBank: NM_014251), with +1 indicating the A of the ATG-
