Prevalence study of genetically defined skeletal muscle channelopathies in England

OBJECTIVES: To obtain minimum point prevalence rates for the skeletal muscle channelopathies and to evaluate the frequency distribution of mutations associated with these disorders. METHODS: Analysis of demographic, clinical, electrophysiologic, and genetic data of all patients assessed at our natio...

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Autores principales: Horga, Alejandro, Raja Rayan, Dipa L., Matthews, Emma, Sud, Richa, Fialho, Doreen, Durran, Siobhan C.M., Burge, James A., Portaro, Simona, Davis, Mary B., Haworth, Andrea, Hanna, Michael G.
Formato: Artigo
Lenguaje:Inglês
Publicado: Lippincott Williams & Wilkins 2013
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3662361/
https://ncbi.nlm.nih.gov/pubmed/23516313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31828cf8d0
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