Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

Crane, 1957, Biochim. Biophys. Acta, 25, 220, 10.1016/0006-3002(57)90457-2 Turunen, 2004, Biochim. Biophys. Acta, 1660, 171, 10.1016/j.bbamem.2003.11.012 Desbats, 2015, Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency, J. Inherit. Metab. Dis., 38, 145, 10.1007/s10545-014-9749-9 Salviati, 2012, Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency, J. Med. Genet., 49, 187, 10.1136/jmedgenet-2011-100394 Brea-Calvo, 2015, CoQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency, Am. J. Hum. Genet., 96, 309, 10.1016/j.ajhg.2014.12.023 Chung, 2015, Mutations in COQ4 , an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy, J. Med. Genet., 52, 627, 10.1136/jmedgenet-2015-103140 Sondheimer, 2017, Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency, Mol Genet Metab Reports, 12, 23, 10.1016/j.ymgmr.2017.05.001 Mignot, 2013, Orphanet J Rare Dis., 8, 173, 10.1186/1750-1172-8-173 Salviati, 2005, Neurology, 65, 606, 10.1212/01.wnl.0000172859.55579.a7