Abstract
The objective was to define the molecular mechanisms underlying congenital myasthenic syndromes (CMS) by studying mutations within genes encoding the acetylcholine receptor (AChR) and related proteins at the neuromuscular junction. It was found that mutations within muscle AChRs are the most common cause of CMS. The majority are located within the epsilon-subunit gene and result in AChR deficiency.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Animals
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Cell Line
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DNA Mutational Analysis
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Exons
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Extracellular Space / genetics
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Extracellular Space / metabolism
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Female
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Humans
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In Situ Hybridization / methods
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Male
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Mutation*
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Myasthenic Syndromes, Congenital / classification
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Myasthenic Syndromes, Congenital / diagnosis
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Myasthenic Syndromes, Congenital / genetics*
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Myasthenic Syndromes, Congenital / physiopathology
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Neuromuscular Junction / abnormalities*
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Neuromuscular Junction / genetics
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Neuromuscular Junction / metabolism
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Patch-Clamp Techniques
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Polymorphism, Single-Stranded Conformational
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Protein Structure, Secondary
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Protein Subunits / genetics
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Protein Subunits / metabolism
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Receptors, Cholinergic / chemistry*
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Receptors, Cholinergic / deficiency
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Receptors, Cholinergic / genetics
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Receptors, Cholinergic / physiology
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Reverse Transcriptase Polymerase Chain Reaction
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Transfection
Substances
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Protein Subunits
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Receptors, Cholinergic