Table 1

Main characteristics of the 28 patients with RCD

Patient No	Age at onset	Age at testing	Main symptoms	Enzyme deficiency	mtDNA
1	2 m	2 m	CM	Complex IV	Normal
2	2 m	5 m	Encephalomyopathy	Complex I	Normal
3	3 m	18 m	Leigh’s syndrome	Complex IV	Normal
4	4 m	5 y	Nephropathy—CM—deafness	Generalised	Normal
5	6 m	7 m	Encephalomyopathy—CM	Complex I	Normal
6	8 m	5 y	Leigh’s syndrome—CM	Complex IV	ND^*
7	9 m	4 y	Leigh’s syndrome	Complex IV	Normal
8	9 m	12 m	Leigh’s syndrome	Complex I	Normal
9	15 m	5 y	Kearns-Sayre syndrome	Complex IV	Normal
10	20 m	5 y	Kearns-Sayre syndrome	Generalised	Depletion
11	2 y	4 y	Myopathy—deafness	Complex IV	Normal
12	3 y	9 y	Myopathy	Complex IV	Normal
13	4 y	7 y	Kearns-Sayre syndrome	Generalised	Depletion
14	5 y	5 y	Kearns-Sayre syndrome	Generalised	Depletion
15	6 y	20 y	Myopathy—CM	Complex I+IV	Normal
16	7 y	13 y	Kearns-Sayre syndrome	Generalised	Deletion
17	8 y	13 y	MERRF	Complex I+IV	Mutation
18	8 y	18 y	Myopathy	Complex III	Normal
19	9 y	13 y	Myopathy	Generalised	Normal
20	12 y	33 y	Ophthalmoplegia	Complex I+IV	Deletion
21	12 y	13 y	Ophthalmoplegia	Generalised	Deletion
22	13 y	45 y	Myopathy—CM	Complex I+IV	Normal
23	14 y	15 y	MELAS	ND	Mutation
24	16 y	22 y	Ophthalmoplegia	Generalised	Deletion
25	18 y	18 y	MERRF	Complex I+IV	Mutation
26	25 y	41 y	MERRF	Complex I+IV	Mutation
27	28 y	34 y	MELAS	Complex I+IV	Mutation
28	30 y	39 y	Ophthalmoplegia	Complex I+IV	Deletion

CM, cardiomyopathy; ND, not determined; m, months; y, years. ^* Dead affected brother of patient had a normal mtDNA analysis.