Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
Por:
Sivera R, Lupo V, Frasquet M, Argente-Escrig H, Alonso-Pérez J, Díaz-Manera J, Querol L, Del Mar García-Romero M, Ignacio Pascual S, García-Sobrino T, Paradas C, Francisco Vázquez-Costa J, Muelas N, Millet E, Jesús Vílchez J, Espinós C and Sevilla T
Publicada:
1 sep 2021
Ahead of Print:
1 jul 2021
Resumen:
MORC2 mutations have been described as a rare cause of axonal Charcot-Marie-Tooth disease (CMT2Z). The aim of this work was to determine the frequency and distribution of these mutations throughout Spain, to provide a comprehensive phenotypical description and, if possible, to establish a genotype-phenotype correlation.
Filiaciones:
Sivera R:
Department of Neurology, Hospital Francesc de Borja, Gandía, Spain
:
Unit of Rare Neurodegenerative Diseases Felipe, Centro de Investigación Príncipe, Valencia, Spain
Frasquet M:
Neuromuscular Diseases Unit, Department of Neurology, 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), Instituto de Salud Carlos III, Madrid, Spain
Argente-Escrig H:
Neuromuscular Diseases Unit, Department of Neurology, 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), Instituto de Salud Carlos III, Madrid, Spain
Alonso-Pérez J:
Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Universitat Autonoma de Barcelona, Barcelona, Spain
Díaz-Manera J:
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Universitat Autonoma de Barcelona, Barcelona, Spain
John Walton Muscular Dystrophy Research Center, Newcastle University Translational and Clinical Research Institute, Newcastle Upon Tyne, UK
Querol L:
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Universitat Autonoma de Barcelona, Barcelona, Spain
Del Mar García-Romero M:
Neuropaediatrics Department, Hospital Universitario La Paz, Madrid, Spain
Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain
Ignacio Pascual S:
Neuropaediatrics Department, Hospital Universitario La Paz, Madrid, Spain
Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain
García-Sobrino T:
Department of Neurology, Complexo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, Spain
Paradas C:
Department of Neurology, Hospital Universitario Virgen del Rocío, Sevilla, Spain
Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain
Francisco Vázquez-Costa J:
Neuromuscular Diseases Unit, Department of Neurology, 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), Instituto de Salud Carlos III, Madrid, Spain
Department of Medicine, Universitat de València, Valencia, Spain
Muelas N:
Neuromuscular Diseases Unit, Department of Neurology, 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), Instituto de Salud Carlos III, Madrid, Spain
Millet E:
Neuromuscular Diseases Unit, Department of Clinical Neurophysiology, Hospital Universitari i Politècnic La Fe, Valencia, Spain
Jesús Vílchez J:
Neuromuscular Diseases Unit, Department of Neurology, 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), Instituto de Salud Carlos III, Madrid, Spain
Department of Medicine, Universitat de València, Valencia, Spain
:
Unit of Rare Neurodegenerative Diseases Felipe, Centro de Investigación Príncipe, Valencia, Spain
Sevilla T:
Neuromuscular Diseases Unit, Department of Neurology, 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), Instituto de Salud Carlos III, Madrid, Spain
Department of Medicine, Universitat de València, Valencia, Spain
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