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Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.
Tufano, Maria; Cappuccio, Gerarda; Terrone, Gaetano; Manganelli, Fiore; Pisciotta, Chiara; Geroldi, Alessandro; Capponi, Simona; Del Giudice, Ennio.
Afiliação
  • Tufano M; Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy.
  • Cappuccio G; Department of Translational Medical Sciences, Section of Pediatrics, University Federico II of Naples, Naples, Italy.
  • Terrone G; Department of Translational Medical Sciences, Section of Pediatrics, University Federico II of Naples, Naples, Italy.
  • Manganelli F; Department of Neurological Sciences, University Federico II of Naples, Naples, Italy.
  • Pisciotta C; Department of Neurological Sciences, University Federico II of Naples, Naples, Italy.
  • Geroldi A; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Science, Section of Medical Genetics, University of Genoa, Genoa, Italy.
  • Capponi S; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Science, Section of Medical Genetics, University of Genoa, Genoa, Italy.
  • Del Giudice E; Department of Translational Medical Sciences, Section of Pediatrics, University Federico II of Naples, Naples, Italy.
J Peripher Nerv Syst ; 20(4): 415-8, 2015 Dec.
Article em En | MEDLINE | ID: mdl-26307494
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Deficiências do Desenvolvimento Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth / Deficiências do Desenvolvimento Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article