A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness - exclusion of CLCN1 exon deletion/duplication by MLPA

We report a 4-generation Turkish family with 10 affected members presenting with myotonia and potassium- and exerciseinduced paralytic attacks. The clinical presentation was neither typical for the chloride channel myotonias Thomsen and Becker nor for the separate sodium channel myotonia entities po...

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Detalles Bibliográficos
Autores principales: Lehmann-Horn, F., Orth, M., Kuhn, M., Jurkat-Rott, K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SpA 2011
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235863/
https://www.ncbi.nlm.nih.gov/pubmed/22106717

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235863/
https://www.ncbi.nlm.nih.gov/pubmed/22106717

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