TABLE 1.

Baseline Characteristics of the Treated TK2-Deficient Patients

Patient	Age, yr/Sex	Country of Origin	Age at Onset	TK2 Mutations	Muscle mtDNA Depletion (relative to normal)	Muscle mtDNA Multiple Deletions	Weight, BMI or P	CK, U/l
1	6/M	Spain	15 mo	p.His121Asn; p.Arg192Lys	13%	No	<1 P	284
2	6/M	Spain	17 mo	p.Tyr208Cys; p.Arg130Trp	15%	No	3 P	148
3	3/F	Spain	10 mo	p.Thr108Met; p.Pro227Serfs*9	30%	No	BMI = 14.3	179
4	7/M	USA	12 mo	p.Lys50Ilefs*99; p.Thr108Met	11%	No	<3 P	NA
5	4/F	Spain	23 mo	p.Lys202del; p.Asp177Tyr	25%	No	<3 P	1,183
6	30/M	Spain	24 mo	Homozygous p.Thr108Met	45%	Yes	BMI = 26.9	757
7	8/F	Spain	6 mo	Homozygous p.Thr108Met	18%	No	<3 P	1,009
8	6/M	Spain	18 mo	Homozygous p.Thr108Met	NA	NA	P50	393
9	12/M	Spain	30 mo	Homozygous p.His121Asn	50%	Yes	<3 P	538
10	8/F	Chile	11 mo	p.Thr108Met; p.His121Asn	NA	NA	BMI = 11.8	179
11	13/M	Italy	24 mo	p.Arg183Gln; p.Lys202del	10%	NA	NA	NA
12	28/M	Guatemala	18 mo	Homozygous p.His121Asn	NA	No	NA	200–5,500
13	32/F	Spain	12 yr	Homozygous p.Thr108Met	17%	Yes	BMI = 13.8	2,500
14	33/F	Spain	16 yr	Homozygous p.Thr108Met	39%	Yes	BMI = 17.7	303
15	60/M	Spain	50 yr	Homozygous p.Lys202del	NA	Yes	BMI = 27.6	400
16	61/F	Spain	30 yr	Homozygous p.Lys202del	60%	Yes	BMI = 27.2	294

Patients 1–5 had early onset severe myopathy patients; patients 6–16 had slower progression.

BMI = body mass index; CK = creatine kinase; F = female; M = male; NA = not available; P = percentile.