Article
Activity-induced weakness in recessive myotonia congenita with a novel (696+1G>A) mutation.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology - 1 Sept 2006
McKay Owen M, Krishnan Arun V, Davis Mark, Kiernan Matthew C
Abstract excerpt
OBJECTIVE: To investigate the cause of the transient weakness that occurs in recessive myotonia congenita (RMC) following sustained muscle contraction. METHODS: Nerve excitability studies were performed on a 35-year-old male with RMC due to a novel 696+1G>A CLCN1 mutation. The median nerve was stimulated at the wrist and compound muscle action potentials (CMAPs) were recorded from abductor pollicis brevis (APB)....
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