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Article

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.

Ophthalmic genetics - 1 Dec 2016

Kolarova Hana, Liskova Petra, Tesarova Marketa, Kucerova Vidrova Vendula, Forgac Martin, Zamecnik Josef, Hansikova Hana, Honzik Tomas

Abstract excerpt

BACKGROUND: Leber hereditary optic neuropathy (LHON) and mitochondrial encephalopathy, myopathy, lactic acidosis and stroke-like episodes (MELAS) syndromes are mitochondrially inherited disorders characterized by acute visual failure and variable multiorgan system presentation, respectively. MATERIALS AND METHODS: A 12-year-old girl with otherwise unremarkable medical history presented with abrupt, painless loss...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26894521
DOI: 10.3109/13816810.2015.1092045

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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