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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Cell Line
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Cells, Cultured
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Female
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Frameshift Mutation*
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Genes, Recessive
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Humans
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Male
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Muscle Fibers, Skeletal / metabolism
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Muscle Proteins / genetics*
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Muscle Proteins / physiology
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Muscle Weakness / physiopathology
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Mutation
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Myasthenic Syndromes, Congenital / genetics*
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Myasthenic Syndromes, Congenital / pathology
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Myasthenic Syndromes, Congenital / physiopathology
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Neuromuscular Junction / pathology*
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Neuromuscular Junction / physiopathology*
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Pedigree
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Polymerase Chain Reaction
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Receptor Protein-Tyrosine Kinases / physiology
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Receptors, Cholinergic / metabolism
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Receptors, Cholinergic / physiology
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Sequence Analysis, DNA
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Synaptic Transmission
Substances
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DOK7 protein, human
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Muscle Proteins
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Receptors, Cholinergic
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MUSK protein, human
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Receptor Protein-Tyrosine Kinases