[A study of clinical and genetic characteristics of a Leber hereditary optic neuropathy family with the heteroplasmic m.14484T>C mutation].

doi:10.3760/cma.j.issn.0412-4081.2018.07.012

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Article

[A study of clinical and genetic characteristics of a Leber hereditary optic neuropathy family with the heteroplasmic m.14484T>C mutation].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 11 Jul 2018

Sun Y, Lei K, Xu Z L, Geng Y

Abstract excerpt

Objective: To study clinical and genetic characteristics of a Leber hereditary optic neuropathy (LHON) family with the heteroplasmic m.14484T>C mutation. Methods: A cross-sectional study. The objects of the study included a 31-year-old male LHON patient with the heteroplasmic m.14484T>C mutation...

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Child
Child, Preschool
Cross-Sectional Studies
DNA, Mitochondrial
Evoked Potentials, Visual
Female
Humans
Male
Middle Aged
Mutation
Optic Atrophy, Hereditary, Leber
Pedigree
Phylogeny
Young Adult

Source

Open in PubMed

Identifiers

PMID: 29996615
DOI: 10.3760/cma.j.issn.0412-4081.2018.07.012

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-29996615-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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