Table 1

 Loci and genes identified in the mitochondrial cytopathies

DisorderOMIM numberInheritanceLocusGene
AD, autosomal dominant; AR, autosomal recessive; CPEO, chronic progressive external ophthalmoplegia; KSS, Kearns-Sayre syndrome; mt, mitochondrial.
CPEO1157640AD10q24 C10orf2
CPEO2/3157640AD4q35 ANT1
CPEO4157640AD and AR15q25 POLG
KSS530000MtMtDNAVarious MtDNA deletions
CPEO with hypogonadism603280AD–Not identified
CPEO with severe cardiomyopathy601779AR–Not identified