title: Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation.
abstract: Charcot-Marie-Tooth disease caused by mutations of the myelin protein zero gene demonstrates considerable phenotypical variability. We describe a 45-year-old female with a peripheral neuropathy with demyelinating and axonal features, pes cavus and pupillary light-near dissociation. She was heterozygous for two mutations in the myelin protein zero gene (His81Tyr and Val113Phe), both present on the same allele. Our patient shows a less severe phenotype than previously described patients with a His81Arg mutation. Multiple mutations in the myelin protein zero gene, as well as Charcot-Marie-Tooth with pupillary abnormalities have previously been described in rare instances. However, concurrent occurrence of both phenomena is a novel finding.
authors.affiliation: Department of Neurology (H2-222), Academic Medical Centre, University of Amsterdam, P.O. Box 22660, 1100 DD Amsterdam, The Netherlands. h.m.bienfait@amc.uva.nl
authors.forename: H M E
authors.initials: HM
authors.lastname: Bienfait
authors.forename: F
authors.initials: F
authors.lastname: Baas
authors.forename: A A W M
authors.initials: AA
authors.lastname: Gabreëls-Festen
authors.forename: J H T M
authors.initials: JH
authors.lastname: Koelman
authors.forename: C T
authors.initials: CT
authors.lastname: Langerhorst
authors.forename: M
authors.initials: M
authors.lastname: de Visser
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018993:Myelin P0 Protein / Q000737:chemistry / Q000235:genetics*; D009431:Neural Conduction; D010641:Phenotype; D017434:Protein Structure, Tertiary; D011681:Pupil Disorders / Q000209:etiology / Q000235:genetics*; D012025:Reflex, Pupillary
chemical_list: D018993:Myelin P0 Protein