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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.

Original publication

DOI

10.1126/science.1130837

Type

Journal article

Journal

Science

Publication Date

29/09/2006

Volume

313

Pages

1975 - 1978

Keywords

Cell Line, Cells, Cultured, Female, Frameshift Mutation, Genes, Recessive, Humans, Male, Muscle Fibers, Skeletal, Muscle Proteins, Muscle Weakness, Mutation, Myasthenic Syndromes, Congenital, Neuromuscular Junction, Pedigree, Polymerase Chain Reaction, Receptor Protein-Tyrosine Kinases, Receptors, Cholinergic, Sequence Analysis, DNA, Synaptic Transmission