Author/Editor		Leonardis, L; Zidar, J; Trontelj, J; Peterlin, B
Title		Correlations between clinical, electrophysiological and genetic findings in hereditary motor and sensory neuropathy type I (HMSN I)
Type		članek
Source		Pflugers Arch
Vol. and No.		Letnik 431, št. 6 Suppl 2
Publication year		1996
Volume		str. R195-6
Language		eng
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 1 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.
Descriptors		GENETICS, BIOCHEMICAL MEMBRANE PROTEINS CHARCOT-MARIE DISEASE ELECTROPHYSIOLOGY NEURAL CONDUCTION POLYMERASE CHAIN REACTION BLOTTING, SOUTHERN