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Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon).

Congenital heart disease - 1 Sept 2018

Niedermayr Katharina, Pölzl Gerhard, Scholl-Bürgi Sabine, Fauth Christine, Schweigmann Ulrich, Haberlandt Edda, Albrecht Ursula, Zlamy Manuela, Sperl Wolfgang, Mayr Johannes A, Karall Daniela

Abstract excerpt

OBJECTIVE: In general, a mitochondrial disorder is diagnosed on the basis of symptom combinations and confirmed by genetic findings. However, patients carrying the m.3243A>G mutation in the mitochondrial tRNA leucine 1 (MT-TL1) do not always meet all the proposed criteria for the most frequently encountered mitochondrial syndrome "MELAS," an acronym for Mitochondrial Encephalomyopathy, Lactic Acidosis, and at...

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PMID: 30133155
DOI: 10.1111/chd.12634

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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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