Table 1.

Characteristics of the cohort of all adult m.3243A>G carriers at baseline and the follow-up cohort

		All carriers				Follow-up (49 carriers)				Difference at baseline	Difference from baseline
		Central value	Spread	Range	n	Central value	Spread	Range	n	p	p
Gender	% female	71			97	65				0.20
Age (years)	Mean, 95%CI	45	17–72	18–81	97	45a	18–64	22–64	49	0.65
BMI (kg/m2)	Median, IQR	22.8	20.7–26.0	16.7–40.9	97	23.6a	17.6–33.2	17.6–33.1	49	0.96
Smoking (current)	% yes	22			84	25			48	1.00
Diabetes mellitus (prevalence)	% yes	39			97	37a			49	0.62
Heteroplasmy percentage, leukocytes (%)	Median, IQR	17	8–26	2–49	95	19a,b	4–41	2–49	47	0.56
Heteroplasmy percentage, UEC (%)	Median, IQR	45	27–69	4–96	95	52a,b	7–91	5–96	47	0.1
NMDAS score	Mean, 95%CI	12c	1–67	0–56	97	14c	2–47	1–92	49	0.81	0.15
Domain 1	Median, IQR	4	1–9	0–23	97	6b,c	1–21	0–38	49	0.85	0.001
Domain 2	Median, IQR	5	3–9	0–22	97	5b,c	0–16	0–31	49	0.81	0.48
Domain 3	Median, IQR	3	1–6	0–20	97	3b,c	0–14	0–23	49	0.87	0.96
Myopathy score	Median, IQR	2	1–4	0–11	97	2b,c	0–12	0–14	49	0.96	0.11
Encephalopathy score	Median, IQR	2	0–3	0–12	97	1b,c	0–5	0–17	49	0.98	0.38
Diabetes mellitus (severity)	Median, IQR	0	0–5	0–5	97	1b,c	0–3	0–5	49	0.37	0.002
Cardiomyopathy (severity)	Median, IQR	0	0–1	0–5	97	0	0–5	0–5	49	0.59	0.001
Stroke-like episodes (severity)	Median, IQR	0	0–0	0–5	97	0	0–0	0–5	49	0.98	0.58
QoL mental	Median, IQR	48	41–55	25–66	97	45	39–55	14–62	47	0.11	0.63
QoL physical	Median, IQR	41	33–51	17–61	97	41	35–49	21–64	47	0.29	0.36
[GDF15] (pg/mL)	Mean, 95%CI	1,525c	411–5,691	333–7,421	97	1,484d	1,072–2,577	370–7,359	49	0.66	0.22
[FGF21] (pg/mL)	Median, IQR	263	142–534	3–1,491	93	278	117–473	56–1,776	24	0.96	0.27

Characteristics for all adult carriers (n = 97) at baseline and for the patients within the follow-up cohort (n = 49) at follow-up. P-values for the difference at baseline between the follow-up cohort and all carriers were calculated (difference at baseline; χ-square test (2 sided); Fisher’s exact test (2 sided), Mann–Whitney U test; independent sample t-test). Also, p-values for the difference between the first and the second measurement within the follow-up cohort are shown (difference from baseline; Wilcoxon signed-rank test, paired t-test). The presence of diabetes mellitus was obtained from the NMDAS scale (score on diabetes mellitus item 3)

BMI body mass index, 95%CI 95% confidence interval, Domain 1 current function, Domain 2 system-specific involvement, Domain 3 current clinical assessment, Encephalopathy score sum of the encephalopathic symptoms of the NMDAS (psychiatric symptoms, migraine, seizure, stroke-like episodes, encephalopathy, and cognition), GDF15 growth and differentiation factor 15, IQR interquartile range, Myopathy score sum of the myopathic symptoms of the NMDAS (exercise intolerance, respiratory muscle weakness, ptosis, external ophthalmoplegia, and myopathy), n number of carriers of which data were available at that specific time point, NMDAS Newcastle mitochondrial disease adult scale, UEC urinary epithelial cells

^aAt baseline

^bMean and 95%CI instead of median and IQR are given

^cLognormal distribution

^dMedian and IQR instead of mean and 95%CI are given