Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON

Leber's hereditary optic neuropathy (LHON) is a common cause of inherited blindness, primarily due to one of three mitochondrial DNA (mtDNA) mutations. LHON, which has an unexplained variable penetrance and pathology, is characterised by disruption of the mitochondrial respiratory chain ultimat...

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Detalhes bibliográficos
Main Authors: Hudson, Gavin, Yu-Wai-Man, Patrick, Griffiths, Philip G., Horvath, Rita, Carelli, Valerio, Zeviani, Massimo, Chinnery, Patrick F.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier Science 2011
Assuntos:
Short Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3115022/
https://ncbi.nlm.nih.gov/pubmed/21397051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mito.2011.03.004
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