Article
Isolated eyelid closure myotonia in two families with sodium channel myotonia.
Neurogenetics - 1 May 2010
Stunnenberg B C, Ginjaar H B, Trip J, Faber C G, van Engelen B G, Drost G
Abstract excerpt
Sodium channelopathies (NaCh), as part of the non-dystrophic myotonic syndromes (NDMs), reflect a heterogeneous group of clinical phenotypes accompanied by a generalized myotonia. Because of recent availability of diagnostic genetic testing in NDM, there is a need for identification of clear clinical genotype-phenotype correlations. This will enable clinicians to distinguish NDMs from myotonic dystrophy, thus...
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