Open AccessVariable Presentation of Leber Hereditary Optic Neuropathy in Children of a Family Harboring a Rare m.13051G>A mtDNA Mutation
Author(s) -
Vasily Smirnov,
JeanMarie Cuisset,
C. Marks,
Philip R. Debruyne,
ClaireMarie Dhaenens,
Sabine DefoortDhellemmes
Publication year - 2020
Publication title -
journal of neuro-ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.586
H-Index - 55
eISSN - 1536-5166
pISSN - 1070-8022
DOI - 10.1097/wno.0000000000001083
Subject(s) - leber's hereditary optic neuropathy , medicine , mitochondrial disease , optic neuropathy , heteroplasmy , mitochondrial respiratory chain , proband , ophthalmology , mitochondrial dna , pallor , respiratory chain , optic nerve , pathology , mutation , genetics , biology , mitochondrion , gene