title: Charcot-Marie-Tooth neuropathy related to chromosome 1.
abstract: One family with documented male-to-male transmission of Charcot-Marie-Tooth (CMT) neuropathy was studied clinically and by genetic linkage. Patients had progressive distal weakness and atrophy, areflexia, and distal sensory loss, but early onset (before age 3 years) in all 5 cases, and phrenic nerve involvement in the propositus (a 39-year-old woman) requiring CPAP ventilator support during the night. Motor-nerve conduction velocities (MNCVs) were significantly slow, consistent with severe demyelinating neuropathy. Electromyography (EMG) data were normal. Two-point and multipoint linkage analyses strongly suggested the presence of a CMT gene on chromosome 1q. A maximum multipoint lod score of 2.70 was obtained at MUC1 (theta = 0), with the locus order centromere-MUC1-SPTA1-Fc gamma RII-AT3-telomere. Multipoint linkage analysis excluded the CMT locus from chromosome 17 markers in this family.
authors.affiliation: Department of Pediatrics, University of Iowa Hospitals, Iowa City.
authors.forename: V V
authors.initials: VV
authors.lastname: Ionasescu
authors.forename: J
authors.initials: J
authors.lastname: Trofatter
authors.forename: J L
authors.initials: JL
authors.lastname: Haines
authors.forename: R
authors.initials: R
authors.lastname: Ionasescu
authors.forename: C
authors.initials: C
authors.lastname: Searby
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree