SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review

Author:

Chan Tina Yee-ChingORCID,Hung Ling-YinORCID,Lam Tiffany Yan-LokORCID,Sheng BunORCID,Leung Frank Ying-Kit,Lee Hencher Han-ChihORCID

Publisher

Elsevier BV

Subject

Multidisciplinary

Reference33 articles.

1. Voltage-gated sodium channels: structure, function, pharmacology, and clinical indications;de Lera Ruiz;J. Med. Chem.,2015

2. Myasthenic syndrome caused by mutation of the SCN4A sodium channel;Tsujino;Proc Natl Acad Sci U S A,2003

3. Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome;Arnold;Ann. Neurol.,2015

4. A recessive Nav1.4 mutation underlies congenital myasthenia syndrome with e;Habbout;Neurology,2015

5. A third case of congenital myasthenic syndrome caused by mutations in SCN4A;Witting;Neuromuscul. Disord.,2015

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