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 18 patients without duplication. No statistically significant differences in age of onset of symptoms, clinical signs...
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