Variable Presentation of Leber Hereditary Optic Neuropathy in Children of a Family Harboring a Rare m.13051GA mtDNA Mutation

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Title Variable Presentation of Leber Hereditary Optic Neuropathy in Children of a Family Harboring a Rare m.13051GA mtDNA Mutation
Creator Vasily M. Smirnov, MD; Jean-Marie Cuisset, MD; Caroline Marks, MD; Philippe Debruyne, MSc; Claire-Marie Dhaenens, PharmD, PhD; Sabine Defoort- Dhellemmes, MD
Affiliation Exploration de la Vision et Neuro-Ophtalmologie (VMS, CM, PD, SD- D), CHU de Lille, Lille, France; Université de Lille (VMS), Faculté de Médecine, Lille Cedex, France; Neurologie pédiatrique (J-MC), CHU de Lille, Lille, France; and Université de Lille (C-MD), Inserm UMRS 1172, CHU Lille, Biochemistry and Molecular Biology Department UF Génopathies, Lille, France
Abstract Leber hereditary optic neuropathy (LHON) is typically characterized by a subacute painless sequential visual loss in young or middle-aged men.
Subject Child, Preschool; DNA Mutational Analysis; DNA, Mitochondrial / genetics; Female; Humans; Male; Mutation; Optic Atrophy, Hereditary, Leber / genetics; Optic Atrophy, Hereditary, Leber / metabolism; Pedigree; Rare Diseases
OCR Text Show
Date 2020-12
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, December 2020, Volume 40, Issue 4
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s6h5ft0j
Setname ehsl_novel_jno
ID 1741130
Reference URL https://collections.lib.utah.edu/ark:/87278/s6h5ft0j
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