Article
End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.
Brain : a journal of neurology - 1 Jul 2001
Croxen R, Young C, Slater C, Haslam S, Brydson M, Vincent A, Beeson D
Abstract excerpt
Acetylcholine receptor (AChR) deficiency is the most common of the congenital myasthenic syndromes (CMS). Typically, the number of AChRs, measured by alpha-bungarotoxin binding, is reduced to 10-30% of normal levels, the miniature end-plate potentials are correspondingly reduced, and there are mo...
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