Cargando…
Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation
We studied a two-generation family presenting with conditions that included progressive permanent weakness, myopathic myopathy, exercise-induced contracture before normokalaemic periodic paralysis or, if localized to the tibial anterior muscle group, transient compartment-like syndrome (painful acut...
Autores principales: | Fan, Chunxiang, Lehmann-Horn, Frank, Weber, Marc-André, Bednarz, Marcin, Groome, James R., Jonsson, Malin K. B., Jurkat-Rott, Karin |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3859226/ https://www.ncbi.nlm.nih.gov/pubmed/24240197 http://dx.doi.org/10.1093/brain/awt300 |
Ejemplares similares
-
Na(V)1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery
por: Groome, James R., et al.
Publicado: (2014) -
Domain III S4 in closed-state fast inactivation: Insights from a periodic paralysis mutation
por: Groome, James R, et al.
Publicado: (2014) -
Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis
por: FAN, CHUNXIANG, et al.
Publicado: (2018) -
Do Hyperpolarization-induced Proton Currents Contribute to the Pathogenesis of Hypokalemic Periodic Paralysis, a Voltage Sensor Channelopathy?
por: Jurkat-Rott, Karin, et al.
Publicado: (2007) -
Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients
por: Kuhn, Marius, et al.
Publicado: (2016)