Table 1

Summary of clinical features seen in 129 patients with the m.3243A>G mutation from ‘The UK MRC Mitochondrial Disease Patient Cohort Study’

Clinical phenotypeNumber of patients (M : F) (n=129)Non-syndromic clinical features
CPEORetinopathySNHLDMCVA-like episodesEncephalopathyProximal myopathyAtaxiaMigraineSeizuresDystoniaDD or cognitive declineGISSCM
MELAS13 (7:6)013213132457131114
MIDD39 (15:24)0113939108783004236
MELAS/MIDD8 (4:4)0088884525000003
CPEO0 (0:0)
MELAS/CPEO2 (0:2)2111221211000000
MIDD/CPEO6 (4:2)6266011211000010
CPEO+8 (4:4)8021114351000001
MERRF1 (1:0)0000000011000000
Isolated SNHL4 (2:2)0040000000000000
Asymptomatic12 (3:9)
Atypical36 (10:26)0113024177149236114
  • CM, cardiomyopathy; CPEO, chronic progressive external ophthalmoplegia; CVA, cerebrovascular accident; D, dilated; DD, developmental delay; DM, diabetes mellitus; F, female; GI, gastrointestinal; H, hypertrophic; M, male; MELAS, mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes; MERRF, myoclonic epilepsy with ragged red fibres; MIDD, maternally inherited deafness and diabetes; MRC, Medical Research Council; SNHL, sensorineural hearing loss; SS, short stature.