Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?

ANT1 is one of the nuclear genes responsible of autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA multiple deletions. The course of ANT1- related adPEO is relatively benign, symptoms being generally restricted to skeletal muscle. Here we report the case of an Ita...

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Autores principales: Simoncini, Costanza, Siciliano, Gabriele, Tognoni, Gloria, Mancuso, Michelangelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SRL 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479106/
https://www.ncbi.nlm.nih.gov/pubmed/28690391
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author Simoncini, Costanza
Siciliano, Gabriele
Tognoni, Gloria
Mancuso, Michelangelo
author_facet Simoncini, Costanza
Siciliano, Gabriele
Tognoni, Gloria
Mancuso, Michelangelo
author_sort Simoncini, Costanza
collection PubMed
description ANT1 is one of the nuclear genes responsible of autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA multiple deletions. The course of ANT1- related adPEO is relatively benign, symptoms being generally restricted to skeletal muscle. Here we report the case of an Italian 74 years old woman with ANT1-related adPEO and dementia. Further studies are needed to assess the prevalence of central neurological manifestations in ANT1 mitochondrial disease.
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spelling pubmed-54791062017-07-07 Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link? Simoncini, Costanza Siciliano, Gabriele Tognoni, Gloria Mancuso, Michelangelo Acta Myol Case Reports ANT1 is one of the nuclear genes responsible of autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA multiple deletions. The course of ANT1- related adPEO is relatively benign, symptoms being generally restricted to skeletal muscle. Here we report the case of an Italian 74 years old woman with ANT1-related adPEO and dementia. Further studies are needed to assess the prevalence of central neurological manifestations in ANT1 mitochondrial disease. Pacini Editore SRL 2017-03 /pmc/articles/PMC5479106/ /pubmed/28690391 Text en The journal and the individual contributions contained in it are protected by the copyright of Gaetano Conte Academy, Naples, Italy http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License, which permits for noncommercial use, distribution, and reproduction in any digital medium, provided the original work is properly cited and is not altered in any way. For details, please refer to http://creativecommons.org/licenses/by-nc-nd/3.0/
spellingShingle Case Reports
Simoncini, Costanza
Siciliano, Gabriele
Tognoni, Gloria
Mancuso, Michelangelo
Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?
title Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?
title_full Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?
title_fullStr Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?
title_full_unstemmed Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?
title_short Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?
title_sort mitochondrial ant-1 related adpeo leading to cognitive impairment: is there a link?
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479106/
https://www.ncbi.nlm.nih.gov/pubmed/28690391
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