title: Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene.
abstract: The authors report in patients with Val102/fs null mutation a possibly age dependent variability of clinical and electrophysiologic phenotype, segmental conduction abnormalities mainly in ulnar nerves at the elbow, and excessive myelin foldings and thickenings. The authors hypothesize that myelin thickenings at the paranodal region, in concurrence with compression at usual entrapment sites or minor repetitive trauma, may induce segmental conduction abnormalities.
authors.affiliation: Neurodegenerative Diseases Unit, Aging Research Center, Ce.S.I., G d'Annunzio University Foundation Chieti-Pescara, Chieti, Italy.
authors.forename: M V
authors.initials: MV
authors.lastname: De Angelis
authors.forename: A
authors.initials: A
authors.lastname: Di Muzio
authors.forename: M
authors.initials: M
authors.lastname: Capasso
authors.forename: C
authors.initials: C
authors.lastname: Angiari
authors.forename: T
authors.initials: T
authors.lastname: Cavallaro
authors.forename: G M
authors.initials: GM
authors.lastname: Fabrizi
authors.forename: N
authors.initials: N
authors.lastname: Rizzuto
authors.forename: A
authors.initials: A
authors.lastname: Uncini
mesh_terms: D000328:Adult; D000368:Aged; D001706:Biopsy; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D018389:Codon, Nonsense; D012090:Cumulative Trauma Disorders / Q000150:complications; D005260:Female; D005530:Foot Deformities / Q000235:genetics; D016368:Frameshift Mutation; D020233:Gait Disorders, Neurologic / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics*; D018993:Myelin P0 Protein / Q000172:deficiency / Q000235:genetics*; D009186:Myelin Sheath / Q000473:pathology*; D009431:Neural Conduction; D010292:Paresthesia / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012021:Reflex, Abnormal / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology; D014459:Ulnar Nerve / Q000503:physiopathology
chemical_list: D018389:Codon, Nonsense; D018993:Myelin P0 Protein