Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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.

Type

Journal article

Journal

Neurology

Publication Date

28/05/2002

Volume

58

Pages

1563 - 1565

Keywords

Adult, Alleles, Autoantibodies, DNA Mutational Analysis, Female, Humans, Middle Aged, Muscle, Skeletal, Mutation, Myasthenic Syndromes, Congenital, Polymorphism, Single-Stranded Conformational, Receptors, Cholinergic