Table 2 Clinical symptoms and mutation load in the four tissues.
Clinical symptoms | n | Mutation load (%) | ||||
---|---|---|---|---|---|---|
Age | Blood | Buccal | UEC | Muscle | ||
(years) | mucosa | |||||
MELAS, epilepsy, HI, ataxia | 2 | 18 to 25 | 30 to 44 | 71 | 72 | 87 to 92 |
MIDD, encephalopathy, EIT | 5 | 21 to 42 | 30 to 57 | 44 to 65 | 48 to 96 | 37 to 90 |
MIDD | 8 | 37 to 74 | 10 to 39 | 29 to 67 | 18 to 90 | 69 |
MIDD, EIT | 10 | 35 to 65 | 9 to 38 | 28 to 53 | 18 to 91 | 62 to 84 |
IGT, HI, EIT | 4 | 60 to 74 | 4 to 57 | 18 to 22 | 41 to 83 | 50 to 90 |
IGT | 5 | 37 to 61 | 4 to 19 | 11 to 32 | 7 to 34 | 18 to 56 |
HI | 2 | 10 to 48 | 17 to 70 | 70 | 94 | 71 to 82 |
CU | 23 | 7 to 66 | 0 to 61 | 0 to 79 | 0 to 92 | 0 to 83 |
Other* | 6 | 13 to 62 | 0 to 55 | 0 to 58 | 0 to 70 | 0 to 76 |
*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.