Table 1.
Patients | Age (years) | Sex | BCD | Mutation | NAO | NAAO | NOIPH | MIMODSs |
---|---|---|---|---|---|---|---|---|
1 | 57 | M | nd | tRNA(Leu) | 7 | 13 | 23 | 43 |
2 | 66 | M | n | ND1 | 7 | 16 | 26 | 49 |
3 | 65 | F | C1,2,3 | nd | 6 | 14 | 25 | 45 |
4 | 79 | M | C1-4 | nd | 7 | 14 | 20 | 41 |
5 | 81 | F | C4 | nd | 3 | 4 | 8 | 15 |
6 | 71 | M | nd | tRNA(Thr) | 3 | 6 | 12 | 21 |
7 | 46 | M | C1-4 | nd | 5 | 11 | 23 | 39 |
8 | 51 | M | C4 | nd | 4 | 10 | 15 | 29 |
9 | 34 | F | C1-4 | nd | 8 | 12 | 20 | 40 |
10 | 81 | F | C2,3 | nd | 5 | 12 | 24 | 41 |
11 | 70 | F | n | mtDNAdel | 8 | 14 | 23 | 45 |
12 | 38 | F | nd | tRNA(Glu) | 4 | 8 | 13 | 25 |
13 | 75 | F | C1 | ND1 | 7 | 19 | 33 | 59 |
14 | 66 | F | nd | 16S-rRNA | 3 | 7 | 17 | 27 |
15 | 74 | M | C1 | nd | 5 | 11 | 15 | 31 |
16 | 29 | F | nd | mtDNAdel | 9 | 20 | 44 | 53 |
17 | 59 | M | C1 | nd | 4 | 6 | 12 | 22 |
18 | 56 | M | nd | ND1 | 4 | 12 | 23 | 39 |
19 | 43 | M | nd | cytb, ND1 | 9 | 21 | 41 | 71 |
20 | 64 | M | nd | tRNA(Lys) | 6 | 10 | 22 | 38 |
21 | 45 | F | nd | mtDNAdel | 4 | 5 | 10 | 19 |
22 | 82 | F | C1 | nd | 7 | 16 | 29 | 52 |
23 | 73 | F | nd | tRNA(Lys) | 7 | 15 | 32 | 54 |
24 | 62 | M | C2,3 | nd | 6 | 11 | 14 | 31 |
25 | 47 | M | nd | ND3 | 3 | 8 | 11 | 22 |
26 | 50 | M | C4 | nd | 7 | 10 | 21 | 38 |
27 | 82 | F | nd | cytb | 5 | 10 | 17 | 32 |
28 | 68 | F | nd | tRNA(Lys) | 4 | 11 | 19 | 33 |
29 | 44 | M | nd | tRNA(Lys) | 1 | 1 | 1 | 3 |
30 | 60 | M | nd | ND3 | 2 | 3 | 6 | 11 |
31 | 65 | F | nd | tRNA(Iso), cytb, ATP6 | 8 | 18 | 31 | 57 |
32 | 68 | M | C1 | nd | 4 | 6 | 14 | 24 |
33 | 53 | M | nd | ND1 | 4 | 7 | 15 | 26 |
34 | 49 | F | C1-4 | mtDNA depletion | 4 | 7 | 10 | 21 |
35 | 67 | F | C1 | nd | 7 | 10 | 18 | 35 |
36 | 67 | M | C2,3,4 | nd | 5 | 11 | 21 | 37 |
Note: Gene names are in italics.
Abbreviations: BCD, biochemical defect; C, respiratory chain complex; F, female; M, male; MID, mitochondrial disorder; MIMODSs, mitochondrial multiorgan disorder syndrome score; n, normal; NAAO, number of abnormalities in all organs; NAO, number of affected organs; nd, not done; NOIPH, number of individual PubMed hits.