A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease by Duncan Andrew J, Bitner-Glindzicz Maria, Meunier Brigitte, Costello Harry, Hargreaves Iain P, López Luis C, Hirano Michio, Quinzii Catarina M, Sadowski Michael I, Hardy John, Singleton Andrew, Clayton Peter T, Rahman Shamima in American journal of human genetics (2009).

[PMID: 19375058] PubMed


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