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A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.
Tozza, Stefano; Magri, Stefania; Pennisi, Elena Maria; Schirinzi, Erika; Pisciotta, Chiara; Balistreri, Francesca; Severi, Daniele; Ricci, Giulia; Siciliano, Gabriele; Taroni, Franco; Santoro, Lucio; Manganelli, Fiore.
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  • Tozza S; Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples "Federico II", Naples, Italy.
  • Magri S; Department of Diagnostics and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Pennisi EM; Neurology Unit, San Filippo Neri Hospital, Rome, Italy.
  • Schirinzi E; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Pisciotta C; Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples "Federico II", Naples, Italy.
  • Balistreri F; Department of Diagnostics and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Severi D; Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples "Federico II", Naples, Italy.
  • Ricci G; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Siciliano G; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Taroni F; Department of Diagnostics and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Santoro L; Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples "Federico II", Naples, Italy.
  • Manganelli F; Department of Neuroscience, Reproductive Sciences and Odontostomatology, University of Naples "Federico II", Naples, Italy.
J Peripher Nerv Syst ; 24(2): 219-223, 2019 06.
Article en En | MEDLINE | ID: mdl-30843326
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteína 2 de la Respuesta de Crecimiento Precoz / Mutación Límite: Adult / Aged / Female / Humans / Male Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteína 2 de la Respuesta de Crecimiento Precoz / Mutación Límite: Adult / Aged / Female / Humans / Male Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Italia