Novel Mutations of mtDNA m.14568G>A/m.14568C>T in MT-ND6 and m.7299A>G in MT-CO1: Evidence of Pathogenicity in Leber Hereditary Optic Neuropathy-Reference-Cited by-同舟云学术

Novel Mutations of mtDNA m.14568G>A/m.14568C>T in MT-ND6 and m.7299A>G in MT-CO1: Evidence of Pathogenicity in Leber Hereditary Optic Neuropathy

Published:2020-04-30 Issue:4 Volume:40 Page:566-568
ISSN:1070-8022
Container-title:Journal of Neuro-Ophthalmology
language:en
Short-container-title:

Author:

Rizk Maria,Dunya Ibrahim,Azar Georges,Seif Roland,Megarbane Andre,Sadaka Ama

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Clinical Neurology,Ophthalmology

Reference6 articles.

1. Leber hereditary optic neuropathy;Yu-Wai-Man;J Med Genet.,2002

2. Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy;Wissinger;Biochem Biophys Res Commun.,1997

3. Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene;Besch;Graefes Arch Clin Exp Ophthalmol.,1999

4. Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy;Fauser;Ophthalmic Genet.,2002

5. A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I;Brown;Am J Hum Genet.,1992

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