Article
Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.
Journal of neurology, neurosurgery, and psychiatry - 1 Jun 2009
Trip J, Drost G, Ginjaar H B, Nieman F H M, van der Kooi A J, de Visser M, van Engelen B G M, Faber C G
Abstract excerpt
OBJECTIVE: To redefine phenotypical characteristics for both chloride (ClCh) and sodium channelopathies (NaCh) in non-dystrophic myotonic syndromes (NDM). METHODS: In a cross-sectional, nationwide study, standardised interviews and clinical bedside tests were performed in 62 genetically confirmed NDM patients, 32 ClCh and 30 NaCh. RESULTS: Standardised interviews revealed that ClCh reported a higher frequency of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.