Table 1.

Demographic and clinical characteristics of the study participants and outcomes measured in primary dermal fibroblasts obtained from each individual

Clinical group	Age (y)	CGG number	Outcomes measured
Control 1	18	23	Pol; NQR, CCO, ATPase, CS, CN, Del, Conf
Control 2	21	25	Pol; NQR, CCO, ATPase, CS, CN, Del.
Control 3	29	29	Pol; NQR, CCO, ATPase, CS, CN, Del
Control 4	36	30	Pol; NQR, CCO, ATPase, CS, CN, Del; Conf.
Control 5	20	29	Pol; NQR, CCO, ATPase, CS, CN, Del
Control 6	41	43	Pol; NQR, CCO, ATPase, CS, CN, Del
Control 7	12	34	Pol; NQR, CCO, ATPase, CS, CN, Del
Control 8	26	34	Pol; CS, CN, Del
Control 9	24	30	Pol; CS, CN, Del
Control 10	29	30	Pol; CS, CN, Del
Control 11	25	29	Pol; CS, CN, Del
Control 12	16	30	Pol; CS, CN, Del
Control 13	46	30	NQR, CCO, ATPase, CS, CN, Del
Control 14	39	30	Pol; NQR, CCO, ATPase, CS, CN, Del
Control 15	40	30	Pol; NQR, CCO, ATPase, CS, CN, Del, Conf
Control 16	34	30	Pol; NQR, CCO, ATPase, CS, CN, Del, Conf
Premutation 1	17	170	Pol; NQR, CCO, ATPase, CS, CN, Del, Conf.
Premutation 2	23	77	Pol; NQR, CCO, ATPase, CS, CN, Del, Conf.
Premutation 3	33	82	Pol; NQR, CCO, ATPase, CS, CN, Del
Premutation 4	48	127	Pol; NQR, CCO, ATPase, CS, CN, Del, Conf
Premutation 5	25	72	Pol; CS, CN, Del

Pol: activities evaluated by polarography namely NADH oxidase, succinate oxidase and α-glycerophosphate oxidoreductase activities; CCO: Cytochrome c oxidase activity measured spectrophotometrically; CS = citrate synthase activity; NQR = NADH decylubiquinone oxidoreductase activity; CN = mtDNA copy number; Del = mtDNA deletions in segments encoding for ND4 and CYTB; Conf = mitochondrial morphology/distribution by confocal microscopy.