title: Correlations between clinical, electrophysiological and genetic findings in hereditary motor and sensory neuropathy type I (HMSN I).
abstract: We evaluated the correlation between clinical signs, electrophysiological data and molecular genetics findings in patients with HMSN I. We found a duplication in the PMP-22 gene in 60% of HMSN I families. We compared clinical and electrophysiological data between 23 patients with duplication and 18 patients without duplication. No statistically significant differences in age of onset of symptoms, clinical signs and electrophysiological parameters were found.
authors: Laboratory for Molecular Genetics, Medical Centre Ljubljana, Slovenia.
authors: L
authors: L
authors: Leonardis
authors: J
authors: J
authors: Zidar
authors: J
authors: J
authors: Trontelj
authors: B
authors: B
authors: Peterlin
mesh_terms: D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002648:Child; D004247:DNA / Q000032:analysis / Q000302:isolation & purification; D004594:Electrophysiology; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D007962:Leukocytes / Q000737:chemistry; D018895:Microsatellite Repeats; D005810:Multigene Family; D018482:Muscle, Skeletal / Q000473:pathology; D009483:Neuropsychological Tests; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D004247:DNA