Table 1

Enzymological studies

Patient no.	Tissue	Enzyme activities (mmol/min/mg protein)						Ratios			Mutation
Patient no.	Tissue	C I	C II	C III	C IV	Mal ox	Succ ox	Succ/mal	CIV/CI	CIV/CII-CIII	Mutation
Mal ox, malate oxidation; Succ ox, succinate oxidation; CI to V, complex I to V
The ratio values are presented as mean (SD).
Abnormal values are in bold.
1	Muscle mitochondria	21	–	1466	956	16	55	3.4	45.5	3.5	T10158C
1	Trophoblast	25	–	–	271	9	14	1.6	9	–	T10158C
2	Muscle homogenate	3	24	176	150	–	–	–	50	5.2	T10158C
3	Muscle mitochondria	46	110	1324	892	19	67	3.5	19.4	3.4	T14487C
4	Muscle homogenate	3.3	33	153	194	–	–	–	58.8	6.7	T10191C
5	Muscle mitochondria	30	166	1058	971	15	65	4.3	32.3	3.3	T10191C
6	Muscle homogenate	2	39	172	243	–	–	–	120	–	T12706C
7	Heart homogenate	29	157	646	736	–	–	−	25.8	3.3	A13514G
Controls	Muscle mitochondria	45–109	69–268	823–1633	424–1290	21–54	33–95	2.0 (0.3)	10.6 (2.0)	3.2 (0.3)
	Muscle homogenate	8–32	18–70	67–268	86–342	–	–	–	10.6 (0.9)	5.4 (0.6)
	Heart homogenate	25–100	43–188	158–863	242–1105	–	–	–	9.0 (1.7)	3.5 (0.4)
	Trophoblast	24–30	–	–	226–272	8–14	14–21	1.4 (0.2)	9.1 (0.2)	–