title: Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene.
abstract: Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (MPZ) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected conduction velocities), and CMTID (with intermediate conduction velocities). We report a study of seven patients from a four-generation family. All the affected members of the family had a typical CMT phenotype, but three of them had calf hypertrophy. The nerve conduction velocities (NCV) in all of them were between 35 and 43 m/s. Molecular study revealed the novel mutation Lys214Met in the MPZ gene. Molecular study of the MPZ gene would be useful in cases of CMT in families with intermediate NCV, especially if no mutations in the GJB-1 gene are found or there is male-to-male transmission.
authors.affiliation: Centre per el Diagnóstic Genètic i Molecular de Malaties Hereditaries, Intitut de Investigacions biomèdiques de Bellvitge (Idibell), Barcelona, Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: Banchs
authors.forename: Carlos
authors.initials: C
authors.lastname: Casasnovas
authors.forename: Jordi
authors.initials: J
authors.lastname: Montero
authors.forename: Victor
authors.initials: V
authors.lastname: Volpini
authors.forename: Juan Antonio
authors.initials: JA
authors.lastname: Martínez-Matos
mesh_terms: D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002675:Child, Preschool; D004568:Electrodiagnosis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D018993:Myelin P0 Protein