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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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Detalles Bibliográficos
Autores principales: Stunnenberg, B. C., Ginjaar, H. B., Trip, J., Faber, C. G., van Engelen, B. G., Drost, G.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854355/
https://www.ncbi.nlm.nih.gov/pubmed/19876661
http://dx.doi.org/10.1007/s10048-009-0225-x