Article
Correlations between clinical, electrophysiological and genetic findings in hereditary motor and sensory neuropathy type I (HMSN I).
Pflugers Archiv : European journal of physiology - 1 Jan 1996
Leonardis L, Zidar J, Trontelj J, Peterlin B
Abstract excerpt
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...
Topics
- Adolescent
- Adult
- Blotting, Southern
- Child
- DNA
- Electrophysiology
- Hereditary Sensory and Motor Neuropathy
- Humans
- Leukocytes
- Microsatellite Repeats
- Multigene Family
- Muscle, Skeletal
- Neuropsychological Tests
- Phenotype
- Polymerase Chain Reaction