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Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site.
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Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
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Myasthenic syndrome caused by plectinopathy.
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Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.
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Human genetics. Affordable 'exomes' fill gaps in a catalog of rare diseases.
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