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. 2006 Feb 20;43(8):671–677. doi: 10.1136/jmg.2005.039339

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.