Recurrent MECR R258W causes adult-onset optic atrophy: A case report-Reference-Cited by-同舟云学术

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Recurrent MECR R258W causes adult-onset optic atrophy: A case report

Published:2024-04 Issue: Volume:68 Page:104917
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Jia Nan,Yu Shuiqing,Zhang Geng,Li Lin,Wang Jiawei,Lai Chuntao^ORCID

Publisher

Elsevier BV

Reference10 articles.

1. Recessive MECR pathogenic variants cause an LHON-like optic neuropathy;Fiorini;J. Med. Genet.,2024

2. Novel MECR mutation in childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities;Gorukmez;Neuropediatrics,2019

3. MECR-Related Neurologic Disorder;Heimer,2019

4. MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder;Heimer;Am. J. Hum. Genet.,2016

5. Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy;Liu;Mitochondrion,2021

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