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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
  1. NA not available, ND not done, CK creatine kinase, GDF-15 Growth differentiation factor-15