Electrophysiological features of SYT2 mutations; a novel and treatable neuromuscular syndrome

Electrophysiological features of SYT2 mutations; a novel and treatable neuromuscular syndrome

Objectives: To describe the clinical and electrophysiologic features of synaptotagmin II (SYT2) mutations, a novel neuromuscular syndrome characterized by foot deformities and fatigable ocular and lower limb weakness, and the response to modulators of acetylcholine release. Methods: We performed det...

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Main Authors: Whittaker, Roger G. (Author), Herrmann, David N. (Author), Bansagi, Boglarka (Author), Hasan, Bashar Awwad Shiekh (Author), Lofra, Robert Muni (Author), Logigian, Eric L. (Author), Sowden, Janet E. (Author), Almodovar, Jorge L. (Author), Zuchner, Stephan (Author), Horvath, Rita (Author), Lochmüller, Hanns (Author), Littleton, J. Troy (Contributor)
Other Authors: Massachusetts Institute of Technology. Department of Biology (Contributor), Massachusetts Institute of Technology. Department of Brain and Cognitive Sciences (Contributor), Picower Institute for Learning and Memory (Contributor)
Format: Article
Language:English
Published: American Academy of Neurology (AAN), 2017-01-20T19:00:53Z.
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