A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction? (vol 26, pg 113, 2021)

Por: Fionda, L, Turon-Sans, J, Prior, PF, Noguera, SB, Cortes-Vicente, E, Lopez-Perez, MA, Gallardo, E, Rojas-Garcia, R

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Publicada: 1 jun 2021 Ahead of Print: 1 mar 2021

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Filiaciones:
Turon-Sans, J:
 Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, IICS, Madrid, Spain

 Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain

Prior, PF:
 Biomedical Research Institute (IIB) Molecular Bases of Disease, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain

Noguera, SB:
 Biomedical Research Institute (IIB) Molecular Bases of Disease, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain

 Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, IICS, Madrid, Spain

Cortes-Vicente, E:
 Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, IICS, Madrid, Spain

 Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain

Gallardo, E:
 Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, IICS, Madrid, Spain

 Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain

Rojas-Garcia, R:
 Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, IICS, Madrid, Spain

 Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain