Patient | Age at time of CT (y) | Clinical features | Mt DNA analysis |
---|---|---|---|
1.II.1 | 76 | D,DM | + |
1.II.5 | 64,65 | D,DM,A | + |
1.II.7 | 61 | D | + |
1.III.1 | 55,61 | D,DM,S,M | + |
1.III.2 | 57 | D,M | + |
1.IV.1 | 22 | D,M | + |
1.IV.2 | 20 | M | + |
1.IV.3 | 17,17,21,25,27 | D,S,E,A,C,M,SS | + |
1.IV.4 | 9 | S,E | ND |
2.III.5 | 68 | D,DM,S | ND |
2.III.6 | 72,75 | D,DM | ND |
2.III.7 | 69 | D,DM | ND |
2.III.8 | 75,80 | D,DM,S | + |
2.III.9 | 73,78 | D,E | − |
2.IV.2 | 44,48 | D,DM,S,E,A,C | + |
2.IV.3 | 42,47 | D,E | + |
2.IV.5 | 35,40 | D,E | + |
2.V.1 | 39,44 | D,DM,A | + |
2.V.2 | 35,40 | D,M | + |
2.V.3 | 31 | Nil | − |
2.V.4 | 18 | D | + |
2.V.5 | 16 | Nil | + |
2.VI.1 | 12 | Nil | + |
3.II.1 | 48 | D,DM,S,E,M | + |
4.II.3 | 24,31 | D,DM,S,E,A,C,SS | + |
5.II.1 | 16 | D,S,M,SS | + |
6.I.1 | 36 | D,DM,M,SS | + |
6.II.2 | 15 | Nil | + |
D=deafness; DM=diabetes mellitus; S=stroke-like episode; E=epilepsy; A=ataxia; C=cognitive impairment; M=migraine like headache; SS=short stature; +=positive for the MELAS A3243G point mutation; −=mt DNA analysis did not show the MELAS A3243G point mutation; ND=mt DNA analysis not performed.