Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation

Eugenio Maria Mercuri, Mario Sabatelli, Marco Luigetti, Alessandra Del Grande, Angela Romano, Giulia Bisogni, Amelia Conte, Ilaria Contaldo, Franco Taroni, Micaela Milani

Risultato della ricerca: Contributo in rivistaArticolo in rivista

6 Citazioni (Scopus)

Abstract

No abstract
Lingua originaleEnglish
pagine (da-a)271-273
Numero di pagine3
RivistaJournal of the Neurological Sciences
Volume345
DOI
Stato di pubblicazionePubblicato - 2014

Keywords

  • Brain
  • CMT4D
  • Cell Cycle Proteins
  • Charcot-Marie-Tooth Disease
  • Charcot–Marie–Tooth
  • Electromyography
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Lom type
  • Magnetic Resonance Imaging
  • Mutation
  • NDRG1
  • Nerve biopsy
  • Neural Conduction
  • Sural Nerve
  • Young Adult

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