Table 2.

COQ genes involved in human disease

Gene	Kindreds, n	Patients, n	Clinical manifestations	Onset	Response to therapy	Mouse model
PDSS1	1	2	mild mental retardation, macrocephaly, mild lactic acidosis, peripheral neuropathy, livedo reticularis, optic atrophy, cardiac valvulopathy	early childhood	data not available	no
PDSS2	2	4	SRNS, hypotonia, Leigh syndrome, epilepsy, encephalomyopathy and ataxia, deafness, retinitis pigmentosa	neonatal to early childhood	++++	yes
COQ2	9	14	fatal neonatal multisystemic disorder, lactic acidosis, Leigh syndrome, seizures, hypertrophic cardiomyopathy, nystagmus, SRNS, MELAS-like encephalomyopathy, stroke-like episodes, deafness, retinitis pigmentosa, adult-onset multisystem atrophy	neonatal to 7th decade	++++	no
COQ4	1	1	encephalomyopathy	early childhood	++++	no
COQ6	5	11	SRNS, deafness, seizures	early childhood	++++	no
ADCK3	15	21	cerebellar ataxia, encephalopathy, seizures, dystonia, spasticity	early childhood to 2nd decade	+/−	no
ADCK4	7	14	SRNS, mild mental retardation	early childhood to 2nd decade	++++	no
COQ9	1	2	fatal neonatal multisystemic disorder, lactic acidosis, encephalomyopathy	neonatal	+	yes