Talk:Leigh's disease

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[edit] Inheritance

I am almost 100% sure that the cause underlying Leigh`s disease is not a mutation in the mDNA (I also think this must be mtDNA) but that the defect is nuclear encoded. In this case it is autosomal or x-linked recessive inherited.

There are a few types of Leigh's disease. What you're referring to is the X linked Leigh's disease which is not a mutation in the Oxidative Phosphorylation enzymes (which are both on the mtDNA and the nuclear DNA). The X-linked Leigh's disease is a mutation of the gene encoding the E1-alpha subunit of the pyruvate dehydrogenase complex, which is located on the X chomosome. More information on this can be found at OMIM.--Nate 18:54, 18 September 2006 (UTC)