Deficiency of acetylcholine receptors in a case of end-plate acetylcholinesterase deficiency: a histochemical investigation.

A young boy is described who, since early infancy, suffered from weakness of predominantly proximal limb muscles. Electromyography revealed impairment of neuromuscular transmission. There were no antibodies against acetylcholine receptors. The amplitude of miniature end-plate potentials was reduced. Neuromuscular junctions showed somewhat coarse postsynaptic junctional folds and degeneration products in the synaptic clefts and in postsynaptic areas. Using qualitative and semiquantitative histochemical methods, at light- and electronmicroscopical levels, acetylcholinesterase (AChE) activity and acetylcholine receptors (AChRs) were demonstrated to be deficient. This patient demonstrates that the clinical picture of congenital myasthenia may closely resemble a congenital myopathy. The findings provide evidence that AChR deficiency offers protection from some of the effects of AChE deficiency. The clinical features of AChE deficiency depend, not only on the level of residual enzyme activity, but also on the degree of AChR reduction, if present.