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Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2.
Geroldi, Alessandro; Prada, Valeria; Veneri, Francesca; Trevisan, Lucia; Origone, Paola; Grandis, Marina; Schenone, Angelo; Gemelli, Chiara; Lanteri, Paola; Fossa, Paola; Mandich, Paola; Bellone, Emilia.
Afiliación
  • Geroldi A; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health-Medical Genetics, University of Genoa, Genoa, Italy.
  • Prada V; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health-Neurology, University of Genoa, Genoa, Italy.
  • Veneri F; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health-Neurology, University of Genoa, Genoa, Italy.
  • Trevisan L; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health-Medical Genetics, University of Genoa, Genoa, Italy.
  • Origone P; IRCCS Ospedale Policlinico San Martino-UOC Genetica Medica, Genoa, Italy.
  • Grandis M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health-Medical Genetics, University of Genoa, Genoa, Italy.
  • Schenone A; IRCCS Ospedale Policlinico San Martino-UOC Genetica Medica, Genoa, Italy.
  • Gemelli C; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health-Neurology, University of Genoa, Genoa, Italy.
  • Lanteri P; IRCCS-Ospedale Policlinico San Martino-UOC Neurologia, Genoa, Italy.
  • Fossa P; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health-Neurology, University of Genoa, Genoa, Italy.
  • Mandich P; IRCCS-Ospedale Policlinico San Martino-UOC Neurologia, Genoa, Italy.
  • Bellone E; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health-Neurology, University of Genoa, Genoa, Italy.
J Peripher Nerv Syst ; 25(2): 102-106, 2020 06.
Article en En | MEDLINE | ID: mdl-32277537
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteína P2 de Mielina Límite: Adult / Female / Humans / Infant / Male Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Proteína P2 de Mielina Límite: Adult / Female / Humans / Infant / Male Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Italia