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Article

MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions.

Journal of the neurological sciences - 15 Sept 2010

Aharoni Sharon, Traves Teres A, Melamed Eldad, Cohen Sarit, Silver Esther Leshinsky

Abstract excerpt

The syndrome of mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) is characterized clinically by recurrent focal neurological deficits, epilepsy, and short stature. The phenotypic spectrum is extremely diverse, with multisystemic organ involvement leading to isolated diabetes, deafness, renal tubulopathy, hypertrophic cardiomyopathy, and retinitis pigmentosa. In 80% of cases, the...

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Source

Identifiers

PMID: 20655066
DOI: 10.1016/j.jns.2010.06.029

Genes

POLG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions.PMID 20655066Read ↗

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