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Diagnostics
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Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia

Authors

  • Claudia Rodríguez-López Neurology, Hospital Universitario 12 de Octubre, Madrid, Comunidad de Madrid, Spain PubMed articlesGoogle scholar articles
  • Luis M. García-Cárdaba Neurology, Hospital Universitario 12 de Octubre, Madrid, Comunidad de Madrid, Spain PubMed articlesGoogle scholar articles
  • Alberto Blázquez Mitochondrial Disorders Laboratory, Clinical Biochemistry Department, Hospital Universitario 12 de Octubre. Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain PubMed articlesGoogle scholar articles
  • Pablo Serrano-Lorenzo Mitochondrial Disorders Research Group, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Comunidad de Madrid, Spain PubMed articlesGoogle scholar articles
  • Gerardo Gutiérrez-Gutiérrez Neurology, Hospital Universitario Infanta Sofía, San Sebastian de los Reyes, Madrid, Spain PubMed articlesGoogle scholar articles
  • Beatriz San Millán-Tejado Pathology, Complejo Hospitalario de Vigo Hospital Xeral, Vigo, Galicia, Spain PubMed articlesGoogle scholar articles
  • Nuria Muelas Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain Neurology, Hospital Universitari i Politecnic La Fe, Valencia, Valenciana, Spain PubMed articlesGoogle scholar articles
  • Aurelio Hernández-Laín Pathology, Neuropathology Section, Hospital Universitario 12 de Octubre, Madrid, Comunidad de Madrid, Spain PubMed articlesGoogle scholar articles
  • Juan J. Vílchez Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politecnic La Fe, Valencia, Valenciana, Spain Neuromuscular and Ataxias Research Group, Instituto de Investigacion Sanitaria La Fe, Valencia, Spain PubMed articlesGoogle scholar articles
  • Eduardo Gutiérrez-Rivas Neurology, Hospital Universitario 12 de Octubre, Madrid, Comunidad de Madrid, Spain PubMed articlesGoogle scholar articles
  • Joaquín Arenas Mitochondrial Disorders Laboratory, Clinical Biochemistry Department, Hospital Universitario 12 de Octubre. Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain PubMed articlesGoogle scholar articles
  • Miguel A. Martín Mitochondrial Disorders Laboratory, Clinical Biochemistry Department, Hospital Universitario 12 de Octubre. Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain PubMed articlesGoogle scholar articles
  • Cristina Domínguez-González Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain Mitochondrial Disorders Research Group, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Comunidad de Madrid, Spain Neuromuscular Unit, Hospital Universitario 12 de Octubre, Madrid, Comunidad de Madrid, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Miguel A. Martín, Mitochondrial Disorders Laboratory, Hospital Universitario 12 de Octubre, Madrid 28041, Spain; mamcasanueva.imas12{at}h12o.es
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Citation

Rodríguez-López C, García-Cárdaba LM, Blázquez A, et al
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia
Journal of Medical Genetics 2020;57:643-646.

Publication history

  • Received October 22, 2019
  • Revised February 6, 2020
  • Accepted February 22, 2020
  • First published March 11, 2020.
Online issue publication 
August 24, 2020

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© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.