Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy

• DOI: 10.1126/science.1130837
• Publication Date: 2006-08-18T01:10:17Z
• Authors: David Beeson; Osamu Higuchi; Jackie Palace; Judy Cossins; Hayley Spearman; Susan Maxwell; John Newsom-Davis; Georgina Burke; Peter Fawcett; Masakatsu Motomura; Juliane S. Müller; Hanns Lochmüller; Clarke Slater; Angela Vincent; Yuji Yamanashi
• Keywords: Neuromuscular transmission; Proximal muscle weakness; Muscle weakness

Congenital myasthenic syndromes (CMSs) are a group of inherited disorders neuromuscular transmission characterized by fatigable muscle weakness. One major subgroup patients shows characteristic “limb girdle” pattern weakness, in which the muscles have small, simplified junctions but normal acetylcholine receptor and acetylcholinesterase function. We showed that recessive inheritance mutations Dok-7, result defective structure junction, is cause CMS with proximal