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New cause of CoQ10 deficiency
- July 27th, 2009
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.
Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau
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