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Article

A3243G mitochondrial mutation associated with polymicrogyria.

Developmental medicine and child neurology - 1 Oct 2003

Keng W T, Pilz D T, Minns B, FitzPatrick D R

Abstract excerpt

The mitochondrial transfer ribonucleic acid for leucine is encoded by nucleotides 3230-3304. A-to-G transition at nucleotide 3243 can cause maternally transmitted diabetes mellitus-deafness syndrome, and MELAS syndrome. MELAS syndrome is a rare disorder of mitochondrial energy production, and is...

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PMID: 14515943
DOI: 10.1017/s0012162203001300

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14515943-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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