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Dok-7 mutations underlie a neuromuscular junction synaptopathy

Lookup NU author(s): Dr Peter Fawcett, Dr Juliane Mueller, Professor Hanns Lochmuller, Emeritus Professor Clarke Slater


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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.

Publication metadata

Author(s): Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Muller JS, Lochmuller H, Slater C, Vincent A, Yamanashi Y

Publication type: Article

Publication status: Published

Journal: Science

Year: 2006

Volume: 313

Issue: 5795

Pages: 1975-1978

ISSN (print): 0036-8075

ISSN (electronic): 1095-9203

Publisher: American Association for the Advancement of Science


DOI: 10.1126/science.1130837

PubMed id: 16917026


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Funder referenceFunder name
G117/490Medical Research Council