Am J Hum Genet. 2009 May;84(5):558-66. Epub 2009 Apr 16.
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.
Duncan AJ et al.
This group from the UK describes a new form of coQ10 deficiency, a potentially treatable condition.
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