Multidisciplinary study of a new CIC‐1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

Author:

Imbrici Paola1,Altamura Concetta1,Camerino Giulia Maria1,Mangiatordi Giuseppe Felice1,Conte Elena1,Maggi Lorenzo2,Brugnoni Raffaella2,Musaraj Kejla1,Caloiero Roberta1,Alberga Domenico3,Marsano Renè Massimiliano4,Ricci Giulia5,Siciliano Gabriele5,Nicolotti Orazio1,Mora Marina2,Bernasconi Pia2,Desaphy Jean‐Francois5,Mantegazza Renato6,Camerino Diana Conte1

Affiliation:

1. Department of PharmacyDrug SciencesUniversity of Bari “Aldo Moro” Bari Italy

2. Division of Neurology, Neuroimmunology and Neuromuscular Diseases UnitIstituti di Ricovero e Cura a Carattere Scientifico Fondazione Istituto Neurologico “Carlo Besta,” Milan Italy

3. Department of Physics “M. Merlin,”Istituto Nazionale di Fisica Nucleare and Centro di Tecnologie Innovative per la Rilevazione e l'Elaborazione del SegnaleUniversity of Bari “Aldo Moro” Bari Italy

4. Department of BiologyUniversity of Bari “Aldo Moro” Bari Italy

5. Department of Clinical and Experimental MedicineSection of NeurologyUniversity of Pisa Pisa Italy

6. Department of Biomedical Sciences and Human OncologyUniversity of Bari “Aldo Moro” Bari Italy

Publisher

Wiley

Subject

Genetics,Molecular Biology,Biochemistry,Biotechnology

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