title: New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.
abstract: Charcot-Marie-Tooth disease type 1B is associated with mutations in the myelin protein zero gene. In the present study a new myelin protein zero gene mutation (c.89T>C,Ile30Thr) was detected in a family with the Dejerine-Sottas disease phenotype. The results support the hypothesis that severe, early-onset neuropathy may be related to either an alteration of a conserved amino acid or a disruption of the tertiary structure of myelin protein zero.
authors.affiliation: Neurogenetics Unit, Department of Neurology, Eginition Hospital, University of Athens, 74 Vas. Sofias Ave., Athens 11528, Greece.
authors.forename: Paraskewi
authors.initials: P
authors.lastname: Floroskufi
authors.forename: Marios
authors.initials: M
authors.lastname: Panas
authors.forename: Georgia
authors.initials: G
authors.lastname: Karadima
authors.forename: Demetris
authors.initials: D
authors.lastname: Vassilopoulos
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D007532:Isoleucine / Q000737:chemistry / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D018993:Myelin P0 Protein / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013912:Threonine / Q000737:chemistry / Q000235:genetics
chemical_list: D018993:Myelin P0 Protein; D007532:Isoleucine; D013912:Threonine