title: Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation.
authors.affiliation: Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy. Electronic address: mluigetti@gmail.com.
authors.forename: Marco
authors.initials: M
authors.lastname: Luigetti
authors.affiliation: Unit of Genetics of Neurodegenerative and Metabolic Diseases, Carlo Besta Neurological Institute IRCCS Foundation, Milan, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Taroni
authors.affiliation: Unit of Genetics of Neurodegenerative and Metabolic Diseases, Carlo Besta Neurological Institute IRCCS Foundation, Milan, Italy.
authors.forename: Micaela
authors.initials: M
authors.lastname: Milani
authors.affiliation: Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Del Grande
authors.affiliation: Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Romano
authors.affiliation: Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Bisogni
authors.affiliation: Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
authors.forename: Amelia
authors.initials: A
authors.lastname: Conte
authors.affiliation: Institute of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Contaldo
authors.affiliation: Institute of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.affiliation: Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Sabatelli
mesh_terms: D001921:Brain / Q000473:pathology; D018797:Cell Cycle Proteins / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure; D055815:Young Adult; D000099259:N-myc Downstream-Regulated Gene 1 Protein
chemical_list: D018797:Cell Cycle Proteins; D047908:Intracellular Signaling Peptides and Proteins; D000099259:N-myc Downstream-Regulated Gene 1 Protein
keywords: CMT4D; Charcot–Marie–Tooth; Electromyography; Lom type; NDRG1; Nerve biopsy