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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Detalles Bibliográficos
Autores principales: Hudson, Gavin, Yu-Wai-Man, Patrick, Griffiths, Philip G., Horvath, Rita, Carelli, Valerio, Zeviani, Massimo, Chinnery, Patrick F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Science 2011
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115022/
https://www.ncbi.nlm.nih.gov/pubmed/21397051
http://dx.doi.org/10.1016/j.mito.2011.03.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115022/
https://www.ncbi.nlm.nih.gov/pubmed/21397051
http://dx.doi.org/10.1016/j.mito.2011.03.004

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