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Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy

PURPOSE: The majority of patients with autosomal dominant optic atrophy (DOA) harbor pathogenic OPA1 mutations and certain missense mutations, mostly within the GTPase domain, have recently been shown to cause multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. This raises the possibili...

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Hlavní autoři: Yu-Wai-Man, Patrick, Davies, Vanessa J., Piechota, Malgorzata J., Cree, Lynsey M., Votruba, Marcela, Chinnery, Patrick F.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4034167/
https://ncbi.nlm.nih.gov/pubmed/19443720
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.09-3634
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