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Article

Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy.

American journal of medical genetics. Part A - 1 Nov 2015

Mordaunt Dylan A, McIntyre Liam C, Salvemini Hayley, Ibrahim Afdal, Bratkovic Drago, Ketteridge David, Scott Hamish S, Kassahn Karin S, Smith Nicholas

Abstract excerpt

The Mitochondrial tRNALeu (MT-TL1) mutation, m.3243A>G constitutes the commonest identified mitochondrial genome mutation. Characteristically, giving rise to MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes), a phenotypic spectrum associated with this genetic variant is now apparent. We report on the first patient with infantile hemiparesis, without comorbid encephalopathy,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26289840
DOI: 10.1002/ajmg.a.37161

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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