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[Evolution until death of two members of a family with A3243G mutation and MELAS phenotype versus diabetes mellitus].

Neurologia (Barcelona, Spain) - 1 Jan 2000

Pérez López-Fraile M I, Barrena R, Montoya J, Marta E

Abstract excerpt

INTRODUCTION: The A3243G gene tRNALeu(UUR) mutation has different phenotypic expressions. The clinical outcome and survival of each phenotype are mostly unknown. We followed-up two of three family members, carriers of the A3243G mutation, until their death. CLINICAL CASE: The proband case had MELAS (mitochondrial myopathy, encephalopathy, lactacidosis, stroke) phenotype. Although he presented with a stroke-like...

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PMID: 16799910

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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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