Table.

Clinical and Genetic Data of Published Cases With SCO2 Mutations

Source	Phenotype	Muscle	Genotype
Papadopoulou  et al,1 1999	Cardioencephalomyopathy, 3 patients	Absence of COX activity	p.Q53X/E140K in 2 patients, p.E140K/S225F in  1 patient
Jaksch et al,3 2000	Cardioencephalomyopathy, 3 patients	Absence of COX activity	E140K/R171W in 1 patient, E140K/R90X in  2 patients (siblings)
Sue et al,4 2000	Encephalopathy and hypertrophic  cardiomyopathy, 3 patients	Absence of COX activity	Compound heterozygosity, p.E140K/Q53X in  2 patients, p.E140K/S222F in 1 patient
Salviati et al,5  2002	Cardioencephalomyopathy and SMA  phenotype, 1 patient	Absence of COX activity,  neurogenic pattern	Compound heterozygosity, p.E140K and 10-bp  duplication of nucleotides 1302-1311
Sacconi et al,6 2003	Leigh syndrome, 1 patient	Absence of COX activity	Compound heterozygosity, p.E140K/L151P
Foltopoulou et al,7  2004	Cardioencephalomyopathy, 3 patients	Absence of COX activity	E140K, S225F
Tarnopolsky et al,8  2004	Cardiomyopathy and SMA, 1 patient	Absence of COX activity,  neurogenic pattern	Compound heterozygosity, p.E140K and p.C133Y
Tay et al,9 2004	Cardioencephalomyopathy, 1 patient	Absence of COX activity,  neurogenic pattern	Compound heterozygosity, p.E140K and p.Q53X
Vesela et al,10 2004	Cardioencephalomyopathy, 6 patients	Absence of COX activity	p.E140K homozygosity in 5 patients, p.E140K/Q53X  compound heterozygosity in 1 patient
Leary et al,11 2006	Cardiomyopathy, 1 patient	Absence of COX activity	Homozygous p.E140K, hemizygous 16-bp intron  deletion
Knuf et al,12 2007	Fatal cardioencephalomyopathy, 1 patient	Absence of COX activity	Compound heterozygosity, E140K/V160G
Verdijk et al,2 2008	Fatal cardioencephalomyopathy, 1 patient	Absence of COX activity	Compound heterozygosity, p.E140K/W36X
Mobley et al,13  2009	Fatal infantile cardioencephalomyopathy,  1 patient		Homozygous p.G193S
Pronicki et al,14  2010	Floppy infant with stridor and respiratory  insufficiency, hypertrophic  cardiomyopathy, 18 patients	Neurogenic and other patterns,  absence of COX activity	p.E140K in all patients, p.Q53X in 1 patient,  p.M177T in 1 patient
Joost et al,15 2010	Leigh syndrome and cardioencephalomy-  opathy, 1 patient (mother with mental  retardation)	Total absence of COX activity	Compound heterozygosity, c.418G>A (father),  19-bp insertion at position 17 (mother)
Present case	Cardioencephalomyopathy, stridor,  neuropathy, 1 patient	Total absence of COX activity	Compound heterozygosity, p.E140K and 12-bp  deletion (c.1519_1530del)

Abbreviations: bp, base pair; COX, cytochrome-c oxidase; SMA, spinal muscular atrophy.