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Article

Defective fast inactivation recovery of <scp>N</scp>a<sub>v</sub>1.4 in congenital myasthenic syndrome

24 Feb 2015

Abstract excerpt

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 compare the biophysical parameters of wild-type and Arg1457His-mutant Nav 1.4. RESULTS: Clinical and neurophysiological...

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PMID: 25707578
DOI: 10.1002/ana.24389

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