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pro vyhledávání: '"Cléis Beaulieu"'
Autor:
Guy Lenaers, Cléis Beaulieu, Majida Charif, Sylvie Gerber, Josseline Kaplan, Jean-Michel Rozet
Publikováno v:
Brain.
Leber hereditary optic neuropathy (LHON) is a primary inherited neurodegenerative disorder of the optic nerve. It has been ascribed to variants in the mitochondrial genome, mainly the m.3460G>A, m.11778G>A and m.14484T>C mutations in ND1, ND4 and ND6