Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant

Chronic Progressive External Ophthalmoplegia (CPEO) is characterized by ptosis and ophthalmoplegia and is usually caused by mitochondrial DNA (mtDNA) deletions or mt-tRNA mutations. The aim of the present work was to clarify the genetic defect in a patient presenting with CPEO and elucidate the unde...

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Publicado no:Neuromuscul Disord
Main Authors: Bacalhau, Mafalda, Simões, Marta, Rocha, Mariana C., Hardy, Steven A., Vincent, Amy E., Durães, João, Macário, Maria C., Santos, Maria João, Rebelo, Olinda, Lopes, Carla, Pratas, João, Mendes, Cândida, Zuzarte, Mónica, Rego, A. Cristina, Girão, Henrique, Wong, Lee-Jun C., Taylor, Robert W., Grazina, Manuela
Formato: Artigo
Idioma:Inglês
Publicado em: Pergamon Press 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5952895/
https://ncbi.nlm.nih.gov/pubmed/29398297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2017.11.006
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