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[Infantile encephalopathy associated with the MELAS A3243G mutation. Case report].

Investigacion clinica - 1 Jun 2007

Guevara-Campos José, Gonzalez-Guevara Lucía, Parada Yulimar, Urbáez-Cano José

Abstract excerpt

Mitochondrial encephalopathies are a group of diseases that have as their pathogenic basis an alteration of the mitochondrial DNA (mtDNA). The MELAS phenotype (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) has been related to mutation A3243G in approximately 80% of the cases reported. MERRF (epilepsy myoclonus with ragged red fibers) has been related to mutation A8344G and A8566G...

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PMID: 17598646

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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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