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Article

MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy.

Genes - 2 Apr 2021

Gerber Sylvie, Orssaud Christophe, Kaplan Josseline, Johansson Catrine, Rozet Jean-Michel

Abstract excerpt

Pathological variants in the nuclear malonyl-CoA-acyl carrier protein transacylase (MCAT) gene, which encodes a mitochondrial protein involved in fatty-acid biogenesis, have been reported in two siblings from China affected by insidious optic nerve degeneration in childhood, leading to blindness in the first decade of life. After analysing 51 families with negative molecular diagnostic tests, from a cohort of 200...

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Identifiers

PMID: 33918393
DOI: 10.3390/genes12040521
PMCID: PMC8067165

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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