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Article

The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.

Mitochondrion - 1 Sept 2021

Vacchiano Veria, Caporali Leonardo, La Morgia Chiara, Carbonelli Michele, Amore Giulia, Bartolomei Ilaria, Cascavilla Maria Luisa, Barboni Piero, Lamperti Costanza, Catania Alessia, Chan Jane W, Karanja Rustum, Sadun Alfredo A, Liguori Rocco, Bianchi Andrea, Gavazzi Gioele, Mascalchi Mario, Salvi Fabrizio, Carelli Valerio

Abstract excerpt

INTRODUCTION: Isolated complex I deficiency causes several clinical syndromes, including Leigh syndrome (LS), Leber hereditary optic neuropathy (LHON) and mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Here we reported two new patients carrying the rare m.3890G>A/MT-ND1 (p.Arg195Gln) mitochondrial DNA (mtDNA) pathogenic variant, revisited another two previously reported cases,...

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Identifiers

PMID: 34390870
DOI: 10.1016/j.mito.2021.08.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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