Almost complete spontaneous recovery in visual function was observed in a male patient with Leber's hereditary optic neuropathy (LHON), in spite of the presence of several LHON-associated major" and minor" mutations of mitochondrial DNA. Our findings confirm that visual loss in LHON may be reversible, and challenge the hypothesis of a synergistic" effect of multiple mtDNA mutations in the phenotypic expression of the disease. © 1994 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.
Remarkable recovery of visual function in a patient with leber's optic neuropathy and multiple mutations of mitochondrial DNA
Zeviani M.
1994
Abstract
Almost complete spontaneous recovery in visual function was observed in a male patient with Leber's hereditary optic neuropathy (LHON), in spite of the presence of several LHON-associated major" and minor" mutations of mitochondrial DNA. Our findings confirm that visual loss in LHON may be reversible, and challenge the hypothesis of a synergistic" effect of multiple mtDNA mutations in the phenotypic expression of the disease. © 1994 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.