Distinct phenotypes of congenital acetylcholine receptor deficiency.

  title={Distinct phenotypes of congenital acetylcholine receptor deficiency.},
  author={Georgina Burke and Judy A. Cossins and Susan Maxwell and Stephanie Robb and Michael N Nicolle and Angela Vincent and John Newsom-Davis and Jackie Palace and David Beeson},
  journal={Neuromuscular disorders : NMD},
  volume={14 6},
We contrast the phenotypes associated with hereditary acetylcholine receptor deficiency arising from mutations in either the acetylcholine receptor epsilon subunit or the endplate acetylcholine receptor clustering protein rapsyn. Mutational screening was performed by amplification of promoter and coding regions by PCR and direct DNA sequencing. We identified mutations in 37 acetylcholine receptor deficiency patients; 18 had acetylcholine receptor-epsilon mutations, 19 had rapsyn mutations… CONTINUE READING
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