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Article

Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.

Journal of medical genetics - 21 Dec 2023

Fiorini Claudio, Degiorgi Andrea, Cascavilla Maria Lucia, Tropeano Concetta Valentina, La Morgia Chiara, Battista Marco, Ormanbekova Danara, Palombo Flavia, Carbonelli Michele, Bandello Francesco, Carelli Valerio, Maresca Alessandra, Barboni Piero, Baruffini Enrico, Caporali Leonardo

Abstract excerpt

BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder characterised by complex I defect leading to sudden degeneration of retinal ganglion cells. Although typically associated with pathogenic variants in mitochondrial DNA, LHON was recently described in patients carrying biallelic variants in nuclear genes DNAJC30, NDUFS2 and MCAT. MCAT is part of mitochondrial fatty acid synthesis...

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Identifiers

PMID: 37734847
DOI: 10.1136/jmg-2023-109340
PMCID: PMC10804020

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Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.PMID 37734847Read ↗

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