title: Molecular characterization of Charcot-Marie-Tooth patients in 15 pedigrees from France.
abstract: Molecular characterization of Charcot-Marie-Tooth patients in 15 pedigree from France: We collected 15 Charcot-Marie-Tooth (CMT) pedigrees from France. DNA polymorphisms analysis by Southern blotting with probes at the D17S122 locus demonstrated 17p duplication in three CMT1a families and in one sporadic case. Two families affected by CMT2 showed no evidence of the duplication.
authors.affiliation: Centre Regional de Neurogénétique, CHU de Reims, France.
authors.forename: G
authors.initials: G
authors.lastname: Lucotte
authors.forename: S
authors.initials: S
authors.lastname: Berriche
authors.forename: C
authors.initials: C
authors.lastname: Bathelier
authors.forename: J C
authors.initials: JC
authors.lastname: Turpin
authors.forename: P
authors.initials: P
authors.lastname: Jacob
authors.forename: J M
authors.initials: JM
authors.lastname: Paquet
authors.forename: M
authors.initials: M
authors.lastname: Pluot
authors.forename: A
authors.initials: A
authors.lastname: Vandenberghe
mesh_terms: D015139:Blotting, Southern; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17; D003241:Consanguinity; D015342:DNA Probes; D005260:Female; D005602:France; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree
chemical_list: D015342:DNA Probes