Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.

Filiaciones

Lupo V:

Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain

Instituto de Investigación. Rare Diseases Joint Units, IIS La Fe-CIPF, Valencia, Spain

Won S:

Waisman Center, University of Wisconsin-Madison, Madison, WI, USA

Frasquet M:

Neuromuscular Diseases Unit, Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain

Instituto de Investigación. Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain

Schnitzler MS:

Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, WI, USA

Komath SS:

Jawaharlal Nehru University, New Delhi, India

Pascual-Pascual SI:

Neuropediatrics Service, Hospital Universitario La Paz, Madrid, Spain

Espinós C:

Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain

Instituto de Investigación. Rare Diseases Joint Units, IIS La Fe-CIPF, Valencia, Spain

Svaren J:

Waisman Center, University of Wisconsin-Madison, Madison, WI, USA

Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, WI, USA

Sevilla T:

Instituto de Investigación. Rare Diseases Joint Units, IIS La Fe-CIPF, Valencia, Spain

Neuromuscular Diseases Unit, Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain

Instituto de Investigación. Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, Spain

Department of Medicine, Universitat de València, Valencia, Spain