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Article

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

European journal of medical genetics - 1 Apr 2024

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

Abstract excerpt

MECR-related neurologic disorder, also known as mitochondrial enoyl CoA reductase protein-associated neurodegeneration (MEPAN) or dystonia with optic atrophy and basal ganglia abnormalities in childhood (MIM: #617282), is an autosomal recessive inherited disease characterized by a progressive childhood-onset movement disorder and optic atrophy. Here we report a 19-year-old male, presented with progressive visual...

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Identifiers

PMID: 38296034
DOI: 10.1016/j.ejmg.2024.104917

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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