Dissemin is shutting down on January 1st, 2025

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Elsevier, Mitochondrion, 4(11), p. 620-622, 2011

DOI: 10.1016/j.mito.2011.03.004

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

Journal article published in 2011 by Gavin Hudson, Patrick Yu-Wai-Man, Philip G. Griffiths, Rita Horvath ORCID, Valerio Carelli ORCID, Massimo Zeviani, Patrick F. Chinnery
This paper is available in a repository.
This paper is available in a repository.

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Abstract

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 ultimately resulting in degeneration of the retinal ganglion cells.