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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Bibliografske podrobnosti
izdano v:Acta Myol
Main Authors: Simoncini, Costanza, Siciliano, Gabriele, Tognoni, Gloria, Mancuso, Michelangelo
Format: Artigo
Jezik:Inglês
Izdano: Pacini Editore SRL 2017
Teme:
Case Reports
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5479106/
https://ncbi.nlm.nih.gov/pubmed/28690391
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