Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy
David Beeson(Tokyo Medical and Dental University), Osamu Higuchi(Tokyo Medical and Dental University), Jackie Palace(Tokyo Medical and Dental University), Judy Cossins(Tokyo Medical and Dental University), Hayley Spearman(Tokyo Medical and Dental University), Susan Maxwell(Tokyo Medical and Dental University), John Newsom–Davis(Tokyo Medical and Dental University), Georgina Burke(Tokyo Medical and Dental University), P. Fawcett(Tokyo Medical and Dental University), Masakatsu Motomura(Tokyo Medical and Dental University), Juliane S. Müller(Tokyo Medical and Dental University), Hanns Lochmüller(Tokyo Medical and Dental University), Clarke R. Slater(Tokyo Medical and Dental University), Angela Vincent(Tokyo Medical and Dental University), Yuji Yamanashi(Tokyo Medical and Dental University)
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Abstract
Congenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission characterized by fatigable muscle weakness. One major subgroup of patients shows a characteristic "limb girdle" pattern of muscle weakness, in which the muscles have small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function. We showed that recessive inheritance of mutations in Dok-7, which result in a defective structure of the neuromuscular junction, is a cause of CMS with proximal muscle weakness.
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