Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
Chung WK, Martin K, Jalas C, Braddock SR, Juusola J, Monaghan KG, Warner B, Franks S, Yudkoff M, Lulis L, Rhodes RH, Prasad V, Torti E, Cho MT, Shinawi M.
Chung WK, et al.
J Med Genet. 2015 Sep;52(9):627-35. doi: 10.1136/jmedgenet-2015-103140. Epub 2015 Jul 16.
J Med Genet. 2015.
PMID: 26185144