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Neurogenetics
Original article
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

Authors

  • Vincenzo Lupo Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain Rare Diseases Joint Units, INCLIVA & IIS La Fe-CIPF, Valencia, Spain Department of Genomics and Traslational Genetics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain PubMed articlesGoogle scholar articles
  • Marina Frasquet Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain PubMed articlesGoogle scholar articles
  • Ana Sánchez-Monteagudo Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain Rare Diseases Joint Units, INCLIVA & IIS La Fe-CIPF, Valencia, Spain Department of Genomics and Traslational Genetics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain PubMed articlesGoogle scholar articles
  • Ana Lara Pelayo-Negro University Hospital ‘Marqués de Valdecilla (IDIVAL)’ and ‘Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)’, Santander, Spain PubMed articlesGoogle scholar articles
  • Tania García-Sobrino Neurology Department, Hospital Clínico Universitario, Santiago de Compostela, Spain PubMed articlesGoogle scholar articles
  • María José Sedano University Hospital ‘Marqués de Valdecilla (IDIVAL)’ and ‘Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)’, Santander, Spain PubMed articlesGoogle scholar articles
  • Julio Pardo Neurology Department, Hospital Clínico Universitario, Santiago de Compostela, Spain PubMed articlesGoogle scholar articles
  • Mercedes Misiego Neurology Department, Hospital Sierrallana, Torrelavega, Spain PubMed articlesGoogle scholar articles
  • Jorge García-García Neurology Department, Complejo Hospitalario Universitario de Albacete, Albacete, Spain PubMed articlesGoogle scholar articles
  • María Jesús Sobrido Neurogenetics Research Group, Instituto de Investigaciones Sanitarias (IDIS), and Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain PubMed articlesGoogle scholar articles
  • María Dolores Martínez-Rubio Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain Rare Diseases Joint Units, INCLIVA & IIS La Fe-CIPF, Valencia, Spain Department of Genomics and Traslational Genetics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain PubMed articlesGoogle scholar articles
  • María José Chumillas Department of Clinical Neurophysiology, Hospital Universitari i Politècnic La Fe, Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain PubMed articlesGoogle scholar articles
  • Juan Jesús Vílchez Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain Department of Medicine, Universitat de València, Valencia, Spain PubMed articlesGoogle scholar articles
  • Juan Francisco Vázquez-Costa Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain PubMed articlesGoogle scholar articles
  • Carmen Espinós Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain Rare Diseases Joint Units, INCLIVA & IIS La Fe-CIPF, Valencia, Spain Department of Genomics and Traslational Genetics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain PubMed articlesGoogle scholar articles
  • Teresa Sevilla Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain Department of Medicine, Universitat de València, Valencia, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Vincenzo Lupo, Centro de Investigación Príncipe Felipe (CIPF), Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Valencia 46012, Spain; vlupo{at}cipf.es and Dr Teresa Sevilla, Hospital Universitari i Politècnic la Fe, Department of Neurology, Valencia 46026, Spain; sevilla_ter{at}gva.es
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Citation

Lupo V, Frasquet M, Sánchez-Monteagudo A, et al
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
Journal of Medical Genetics 2018;55:814-823.

Publication history

  • Received July 31, 2018
  • Revised September 19, 2018
  • Accepted October 7, 2018
  • First published November 10, 2018.
Online issue publication 
November 22, 2018

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