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Article

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.

Archives of neurology - 1 Feb 2004

Melone Mariarosa A B, Tessa Alessandra, Petrini Stefania, Lus Giacomo, Sampaolo Simone, di Fede Giuseppe, Santorelli Filippo M, Cotrufo Roberto

Abstract excerpt

BACKGROUND: A 26-year-old man presented at onset with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) and later with a phenotype for MELAS and myoclonic epilepsy and ragged red fiber disease (MELAS/MERRF). OBJECTIVE: To identify the possible defects in the mitochondrial genome in blood and muscle samples of the patient. DESIGN: Case study of a patient clinically...

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Identifiers

PMID: 14967777
DOI: 10.1001/archneur.61.2.269

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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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