Mutational analysis of COQ2 in patients with MSA in Italy.

doi:10.1016/j.neurobiolaging.2016.05.022

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Article

Mutational analysis of COQ2 in patients with MSA in Italy.

Neurobiology of aging - 1 Sept 2016

Ronchi Dario, Di Biase Ernesto, Franco Giulia, Melzi Valentina, Del Sorbo Francesca, Elia Antonio, Barzaghi Chiara, Garavaglia Barbara, Bergamini Christian, Fato Romana, Mora Gabriele, Del Bo Roberto, Fortunato Francesco, Borellini Linda, Trezzi Ilaria, Compagnoni Giacomo Monzio, Monfrini Edoardo, Frattini Emanuele, Bonato Sara, Cogiamanian Filippo, Ardolino Gianluca, Priori Alberto, Bresolin Nereo, Corti Stefania, Comi Giacomo Pietro, Di Fonzo Alessio

Abstract excerpt

COQ2 mutations have been implicated in the etiology of multiple system atrophy (MSA) in Japan. However, several genetic screenings have not confirmed the role of its variants in the disease. We performed COQ2 sequence analysis in 87 probable MSA. A homozygous change p.A43G was found in an MSA-C patient. Cosegregation analysis and the evaluation of CoQ10 content in muscle and fibroblasts did not support the...

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PMID: 27394078
DOI: 10.1016/j.neurobiolaging.2016.05.022

Genes

COQ2

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

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