Table 1.

Pathologies resulting from mutations in genes encoding Complex II subunits and assembly factors, and their yeast homologs.

Human Gene	Yeast Gene	Clinical Phenotype 1	Mutation	Confirmation in Yeast	Reference
SDHA	SDH1	Leigh syndrome	homozygous R554W	yes	[25]
			compound heterozygous A524V, M1L	no	[45]
			compound heterozygous W119*, A83V	no	[46]
			homozygous G555E	no	[27]
		late-onset optic atrophy, ataxia, myopathy	heterozygous R408C	no	[47]
		neonatal isolated cardiomyopathy	homozygous G555E	no	[28]
		undefined 2	homozygous G555E	no	[29]
		encephalopathy	compound heterozygous—stop codons at residues 56 and 81	no	[48]
		cardiomyopathy, leukodystrophy	compound heterozygous T508I, S509L	no	[49]
		optic atrophy, progressive, polyneuropathy, cardiomyopathy	heterozygous R451C	no	[50]
SDHB	SDH2	hypotonia, leukodystrophy	homozygous D48V	yes	[49]
		leukoencephalopathy	compound heterozygous D48V, R230H; homozygous L257V 3	no	[51]
SDHD	SDH4	early progressive encephalomyopathy	compound heterozygous E69K, *164Lext*3	no	[52]
SDHAF1	SDH6	leukoencephalopathy	homozygous G57R; homozygous R55P 3	yes	[34]
			homozygous R55P; homozygous Q8*; homozygous G57E 3	no	[37]

¹ Paragangliomas were not included in the table. ² The patient died at five months of age following a respiratory infection before developing other phenotypes. ³ In different patients.