Defective Fast Inactivation Recovery of Na(v)1.4 in Congenital Myasthenic Syndrome

OBJECTIVE: To describe the unique phenotype and genetic findings in a 57-year-old female with a rare form of congenital myasthenic syndrome (CMS) associated with longstanding muscle fatigability, and to investigate the underlying pathophysiology. METHODS: We used whole-cell voltage clamping to compa...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Ann Neurol
Prif Awduron: Arnold, W. David, Feldman, Daniel H., Ramirez, Sandra, He, Liuyuan, Kassar, Darine, Quick, Adam, Klassen, Tara L., Lara, Marian, Nguyen, Joanna, Kissel, John T., Lossin, Christoph, Maselli, Ricardo A.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2015
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4510994/
https://ncbi.nlm.nih.gov/pubmed/25707578
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24389
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