New cause of CoQ10 deficiency

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, _.

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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Philippe Campeau

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