Table 2 Biochemical and molecular characteristics
From: Late-onset thymidine kinase 2 deficiency: a review of 18 cases
ID | Mutation | Muscle Biopsy | Multiple Deletions | Residual mtDNA (%) | Respiratory Chain Enzyme Activity | CK (UI/l) | GDF-15 (pg/mL) | Lactate (mmol/l) | |
|---|---|---|---|---|---|---|---|---|---|
Allele 1 | Allele 2 | ||||||||
1 | c.323C > T (p.Thr108Met) | c.323C > T (p.Thr108Met) | Yes | Yes | 17 | CI, CIII and CIV deficit | 2435 | 2423 | 1.95 |
2 | c.323C > T (p.Thr108Met) | c.323C > T (p.Thr108Met) | Yes | Yes | 39 | Normal | 303 | 2439 | 2.3 |
3 | c.604–606 AAGdel (p.Lys202del) | c.604–606 AAGdel (p.Lys202del) | Yes | Yes | 60 | CIII deficit | 294 | 1695 | 2.6 |
4 | c.604–606 AAGdel (p.Lys202del) | c.604–606 AAGdel (p.Lys202del) | ND | ND | NA | ND | 647 | 2483 | 2.2 |
5 | c.604–606 AAGdel (p.Lys202del) | c.604–606 AAGdel (p.Lys202del) | Yes | Yes | 66 | Normal | 357 | 1529 | 1.5 |
6 | c.323C > T (p.Thr108Met) | c.323C > T (p.Thr108Met) | Yes | Yes | 19 | Normal | 425 | NA | 1.6 |
7 | c.604–606 AAGdel (p.Lys202del) | c.604–606 AAGdel (p.Lys202del) | Yes | Yes | 33 | NA | 568 | NA | 2.6 |
8 | c.604–606 AAGdel (p.Lys202del) | c.604–606 AAGdel (p.Lys202del) | Yes | Yes | NA | NA | 405 | NA | 2.4 |
9 | c.323C > T (p.Thr108Met) | c.323C > T (p.Thr108Met) | Yes | Yes | 35 | CI, CIII and CIV deficit | 190 | NA | NA |
10 | c.323C > T (p.Thr108Met) | c.323C > T (p.Thr108Met) | Yes | NA | NA | Normal | 405 | NA | 3 |
11 | c.604–606 AAGdel (p.Lys202del) | c.604–606 AAGdel (p.Lys202del) | Yes | Yes | NA | ND | 266 | NA | NA |
12 | c.604–606 AAGdel (p.Lys202del) | c.604–606 AAGdel (p.Lys202del) | Yes | Yes | NA | ND | 350 | NA | NA |
13 | c.388C > T (p.Arg130Trp) | c.415G > A (p.Ala139Thr) | Yes | Yes | NA | CI, CIII and CIV deficit | 170 | NA | 4.14 |
14 | c.623A > G (p.Tyr208Cys) | c.623A > G (p.Tyr208Cys) | Yes | Yes | NA | CI, CIII and CIV deficit | 1739 | NA | NA |
15 | c.623A > G (p.Tyr208Cys) | c.623A > G (p.Tyr208Cys) | ND | NA | NA | ND | 381 | NA | NA |
16 | c.323C > T (p.Thr108Met) | c.323C > T (p.Thr108Met) | Yes | Yes | 53 | Normal | 233 | NA | 1.77 |
17 | c.469_470insTGGG (p.Asp157Valfs*11) | c.156 + 6 T > G | Yes | Yes | 50 | NA | 537 | NA | NA |
18 | c.604–606 AAGdel (p.Lys202del) | c.604–606 AAGdel (p.Lys202del) | NA | NA | NA | NA | 1348 | NA | NA |