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Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.

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Further evaluation of polypeptide synthesis in cerebral anoxia, hypoxia and ischemia

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Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

Novel congenital myasthenic syndromes associated with defects in quantal release.

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.

Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.

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