title: Screening of dominantly inherited Charcot-Marie-Tooth neuropathies.
abstract: Sixty-three families with dominantly inherited Charcot-Marie-Tooth (CMT) neuropathies including 730 subjects (total) from which 356 affected were studied clinically, electrophysiologically (MNCVs and EMGs), by genetic linkage, and screened for DNA duplication. Thirty-eight families (60.3%) were type 1A (demyelinating CMT mapped on chromosome 17). DNA duplication was present in 36 families (94.8% of CMT1A families). One CMT1A family (2.6%) showed no duplication but suggested genetic linkage with markers of chromosome 17. One CMT1A family (2.6%) revealed nonduplication in some affected members and duplication in other affected members. The disease in that family segregated with the same chromosome 17 markers regardless of duplication status. The other CMT families with dominant inheritance but without duplication included one family with CMT1B (demyelinating CMT mapped on chromosome 1) (1.6%), 14 families with CMT2 axonal neuropathy (22.2%), and 10 families with X-linked dominant CMT (15.9%).
authors.affiliation: Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242.
authors.forename: V V
authors.initials: VV
authors.lastname: Ionasescu
authors.forename: R
authors.initials: R
authors.lastname: Ionasescu
authors.forename: C
authors.initials: C
authors.lastname: Searby
mesh_terms: D000200:Action Potentials / Q000502:physiology; D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002878:Chromosomes, Human, Pair 1; D002886:Chromosomes, Human, Pair 17; D004247:DNA / Q000235:genetics; D004576:Electromyography; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009046:Motor Neurons / Q000502:physiology; D005810:Multigene Family; D009431:Neural Conduction / Q000502:physiology; D010375:Pedigree; D014960:X Chromosome
chemical_list: D004247:DNA