Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy

PURPOSE: Leber hereditary optic neuropathy (LHON) is a common cause of inherited blindness, primarily due to one of three mitochondrial DNA (mtDNA) mutations. These mtDNA pathogenic mutations have variable clinical penetrance. Recent linkage evidence raised the possibility that the nuclear gene opti...

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Autors principals: Hudson, Gavin, Yu-Wai-Man, Patrick, Griffiths, Phillip G., Caporali, Leonardo, Salomao, Solange S., Berezovsky, Adriana, Carelli, Valerio, Zeviani, Massimo, Chinnery, Patrick F.
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2010
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3012648/
https://ncbi.nlm.nih.gov/pubmed/21203403
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