Chondrodystrophic Myotonia (Schwartz-Jampel Syndrome) in South African Children
- 1 November 1990
- journal article
- research article
- Published by Georg Thieme Verlag KG in Neuropediatrics
- Vol. 21 (04) , 206-210
- https://doi.org/10.1055/s-2008-1071497
Abstract
Three children with the clinical features of the Schwartz-Jampel syndrome are presented, two with classical features and the third with physical and radiological features resembling those found in the Schwartz-Jampel syndrome but myotonia could be elicited either clinically or electrophysiologically. Various arguments are put forward for the absence of myotonic phenomena in the latter child.This publication has 1 reference indexed in Scilit:
- Schwartz-Jampel Syndrome with Autosomal-Dominant InheritanceEuropean Neurology, 1982