Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis

INTRODUCTION: Periodic paralyses (PP) are recurrent episodes of flaccid limb muscle weakness. Next to autosomal dominant forms, sporadic PP (SPP) cases are known but their genetics are unclear. METHODS: In a patient with hypokalemic SPP, we performed exome sequencing to identify a candidate gene. We...

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Detalles Bibliográficos
Autores principales: FAN, CHUNXIANG, KUHN, MARIUS, MBIOL, ALEXANDER PEPLER, GROOME, JAMES, WINSTON, VERN, BISKUP, SASKIA, LEHMANN-HORN, FRANK, JURKAT-ROTT, KARIN
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore srl 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390110/
https://www.ncbi.nlm.nih.gov/pubmed/30838349

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390110/
https://www.ncbi.nlm.nih.gov/pubmed/30838349

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