The ND1 gene of complex I is a mutational hot spot for Leber’s hereditary optic neuropathy

A novel mitochondrial DNA (mtDNA) transition (3733G--> A) inducing the E143 K amino acid change at a very conserved site of the NADH dehydrogenase subunit 1 (ND1) was identified in a family with six maternally related individuals with LHON and in an unrelated sporadic case, all negative for known...

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Bibliographic Details
Published in:American journal of ophthalmology 2005-02, Vol.139 (2), p.401-401
Main Authors: Valentino, M.L., Barboni, P., Ghelli, A., Bucchi, L., Rengo, C., Achilli, A., Torroni, A., Lugaresi, A., Lodi, R., Barbiroli, B., Dotti, M., Federico, A., Baruzzi, A., Carelli, V.
Format: Article
Language:English
Subjects:
Mitochondrial DNA
Mutation
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Summary:A novel mitochondrial DNA (mtDNA) transition (3733G--> A) inducing the E143 K amino acid change at a very conserved site of the NADH dehydrogenase subunit 1 (ND1) was identified in a family with six maternally related individuals with LHON and in an unrelated sporadic case, all negative for known mutations and presenting with the canonical phenotype.
ISSN:0002-9394
1879-1891
DOI:10.1016/j.ajo.2004.12.044