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Article

Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.

BMC neurology - 24 Apr 2023

Scarcella Simone, Dell'Arti Laura, Gagliardi Delia, Magri Francesca, Govoni Alessandra, Velardo Daniele, Mainetti Claudia, Minorini Valeria, Ronchi Dario, Piga Daniela, Comi Giacomo Pietro, Corti Stefania, Meneri Megi

Abstract excerpt

BACKGROUND: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a systemic disorder in which multi-organ dysfunction may occur from mitochondrial metabolism failure. Maternally inherited mutations in the MT-TL1 gene are the most frequent causes for this disorder. Clinical manifestations may include stroke-like episodes, epilepsy, dementia, headache and myopathy. Among...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37095452
DOI: 10.1186/s12883-023-03198-3
PMCID: PMC10123965

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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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