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Article

Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus.

American journal of medical genetics. Part A - 1 Nov 2014

Mancuso Michelangelo, Nesti Claudia, Ienco Elena Caldarazzo, Orsucci Daniele, Pizzanelli Chiara, Chiti Alberto, Giorgi Filippo S, Meschini Maria Chiara, Fontanini Gabriella, Santorelli Filippo Maria, Logerfo Annalisa, Romano Alessandro, Siciliano Gabriele, Bonuccelli Ubaldo

Abstract excerpt

The acronym "MELAS" (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) denotes patients with histological, biochemical and/or molecular evidence of mitochondrial disease who experience stroke-like episodes. Here we report on a girl with repeated stroke-like episodes and status epilepticus, who was diagnosed with MELAS due to a novel mitochondrial cytochrome b gene (MTCYB) mutation...

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Identifiers

PMID: 25125337
DOI: 10.1002/ajmg.a.36725

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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