Correlations between clinical, electrophysiological and genetic findings in hereditary motor and sensory neuropathy type I (HMSN I)

L Leonardis; J Zidar; J Trontelj; B Peterlin

doi:10.1007/BF02346335

Correlations between clinical, electrophysiological and genetic findings in hereditary motor and sensory neuropathy type I (HMSN I)

Pflugers Arch. 1996;431(6 Suppl 2):R195-6. doi: 10.1007/BF02346335.

Authors

L Leonardis¹, J Zidar, J Trontelj, B Peterlin

Affiliation

¹ Laboratory for Molecular Genetics, Medical Centre Ljubljana, Slovenia.

PMID: 8739331
DOI: 10.1007/BF02346335

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.

Publication types

Clinical Trial

MeSH terms

Adolescent
Adult
Blotting, Southern
Child
DNA / analysis
DNA / isolation & purification
Electrophysiology
Hereditary Sensory and Motor Neuropathy / genetics*
Hereditary Sensory and Motor Neuropathy / pathology
Hereditary Sensory and Motor Neuropathy / physiopathology*
Humans
Leukocytes / chemistry
Microsatellite Repeats
Multigene Family
Muscle, Skeletal / pathology
Neuropsychological Tests
Phenotype
Polymerase Chain Reaction

Substances

DNA