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Isolated eyelid closure myotonia in two families with sodium channel myotonia

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 clinica...

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Autors principals: Stunnenberg, B. C., Ginjaar, H. B., Trip, J., Faber, C. G., van Engelen, B. G., Drost, G.
Format: Artigo
Idioma:Inglês
Publicat: Springer-Verlag 2009
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2854355/
https://ncbi.nlm.nih.gov/pubmed/19876661
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-009-0225-x
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