Table 2

 Clinical symptoms and mutation load in the four tissues

Clinical symptomsnMutation load (%)
AgeBloodBuccalUECMuscle
(years)mucosa
*Gastropathy, nephropathy, ataxia, cardiomyopathy, tinnitus.
CU, clinically unaffected; EIT, exercise intolerance; HI, hearing impairment; IGT, impaired glucose tolerance; MIDD, maternally inherited deafness and diabetes mellitus; n, number of subjects.
MELAS, epilepsy, HI, ataxia218 to 2530 to 44717287 to 92
MIDD, encephalopathy, EIT521 to 4230 to 5744 to 6548 to 9637 to 90
MIDD837 to 7410 to 3929 to 6718 to 9069
MIDD, EIT1035 to 659 to 3828 to 5318 to 9162 to 84
IGT, HI, EIT460 to 744 to 5718 to 2241 to 8350 to 90
IGT537 to 614 to 1911 to 327 to 3418 to 56
HI210 to 4817 to 70709471 to 82
CU237 to 660 to 610 to 790 to 920 to 83
Other*613 to 620 to 550 to 580 to 700 to 76