Decrement with high frequency repetitive nerve stimulation in a RAPSN congenital myasthenic syndrome

Muscle Nerve. 2018 Mar;57(3):E106-E108. doi: 10.1002/mus.25995. Epub 2017 Nov 2.

Authors

Samantha J LoRusso¹, Stanley J Iyadurai¹

Affiliation

¹ Wexner Medical Center Department of Neurology, Division of Neuromuscular Medicine, Ohio State University, Columbus, Ohio, USA.

PMID: 29053879
DOI: 10.1002/mus.25995

No abstract available

Keywords: congenital myasthenic syndrome; decrement; electrodiagnostics; electrophysiology; rapsyn; repetitive nerve stimulation.

Publication types

Case Reports

MeSH terms

Adult
Electrodiagnosis
Female
Humans
Muscle Proteins / genetics*
Myasthenic Syndromes, Congenital / diagnosis*
Myasthenic Syndromes, Congenital / genetics
Myasthenic Syndromes, Congenital / physiopathology

Substances

Muscle Proteins
peripheral membrane protein 43K