Article
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.
Human molecular genetics - 1 May 1997
Ohno K, Quiram P A, Milone M, Wang H L, Harper M C, Pruitt J N, Brengman J M, Pao L, Fischbeck K H, Crawford T O, Sine S M, Engel A G
Abstract excerpt
We describe and functionally characterize six mutations of the acetylcholine receptor (AChR) epsilon subunit gene in three congenital myasthenic syndrome patients. Endplate studies demonstrated severe endplate AChR deficiency, dispersed endplate regions and well preserved junctional folds in all three patients. Electrophysiologic studies were consistent with expression of the fetal gamma-AChR at the endplates in...
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