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Article

Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation.

Journal of the neurological sciences - 15 Jan 2011

Salsano Ettore, Giovagnoli Anna Rita, Morandi Lucia, Maccagnano Carmelo, Lamantea Eleonora, Marchesi Chiara, Zeviani Massimo, Pareyson Davide

Abstract excerpt

We report the case of a 23-year-old Italian female harboring the rare m.3291T>C mutation in the MT-TL1 gene, that encodes the mitochondrial transfer RNA for leucine 1 (UUA/G). MT-TL1 mutations usually cause the MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) syndrome. Our patient, however, suffered from a non-syndromic mitochondrial disorder (MID), clinically characterized by...

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Identifiers

PMID: 20943236
DOI: 10.1016/j.jns.2010.09.022

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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