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Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.
Locci, Sara; Cardani, Rosanna; Brunori, Paola; Lucchiari, Sabrina; Comi, Giacomo P; Federico, Antonio; De Stefano, Nicola; Meola, Giovanni; Mignarri, Andrea.
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  • Locci S; Department of Medical, Surgical and Neurological Sciences, Unit of Neurology and Neurometabolic Diseases, University of Siena, Siena, Italy.
  • Cardani R; Laboratory of Muscle Histopathology and Molecular Biology, IRCCS Policlinico San Donato, Milan, Italy.
  • Brunori P; Unit of Neurophysiopathology, Silvestrini Hospital, Perugia, Italy.
  • Lucchiari S; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Comi GP; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Federico A; Department of Medical, Surgical and Neurological Sciences, Unit of Neurology and Neurometabolic Diseases, University of Siena, Siena, Italy.
  • De Stefano N; Department of Medical, Surgical and Neurological Sciences, Unit of Neurology and Neurometabolic Diseases, University of Siena, Siena, Italy.
  • Meola G; Department of Biomedical Sciences for Health, University of Milan, Milan, Italy.
  • Mignarri A; Department of Neurorehabilitation Sciences, Casa di Cura del Policlinico, Milan, Italy.
Neurol Sci ; 42(12): 5365-5368, 2021 Dec.
Article en En | MEDLINE | ID: mdl-34386887
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Miotonía / Distrofia Miotónica / Miotonía Congénita Límite: Humans Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Miotonía / Distrofia Miotónica / Miotonía Congénita Límite: Humans Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2021 Tipo del documento: Article País de afiliación: Italia