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Neurology 2002;58:1563-1565
© 2002 American Academy of Neurology
Brief Communications

Myasthenia gravis in a woman with congenital AChR deficiency due to {epsilon}-subunit mutations

Rebecca Croxen, DPhil, Angela Vincent, FRCPath, John Newsom–Davis, FRS and David Beeson, PhD

From the Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford, United Kingdom.

Address correspondence and reprint requests to Dr. David Beeson, Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford OX3 9DS, UK; e-mail: dbeeson{at}hammer imm.ox.ac.uk

A reduction in the number of acetylcholine receptors (AChR) on the postsynaptic membrane is characteristic of MG. This may be inherited (AChR deficiency syndrome) or acquired (MG). The authors report two sisters with AChR deficiency caused by heteroallelic mutations in the AChR {epsilon}-subunit gene. The younger sister developed MG at 34 years. This unusual case raises the possibility that genetic defects of the AChR might be a factor in the etiology of autoimmune MG.




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