Article
Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene.
Neuropediatrics - 1 Oct 2002
Barisic N, Schmidt C, Sidorova O P, Herczegfalvi A, Gekht B M, Song I-H, Stucka R, Karcagi V, Abicht A, Lochmüller H
Abstract excerpt
Mutations in the epsilon-acetylcholine receptor (AChR epsilon) subunit gene cause congenital myasthenic syndromes (CMS) with postsynaptic neural transmission defects. We present 3 male and 2 female patients from three unrelated Croatian, Hungarian, and Russian families with autosomal recessive CMS. All patients manifested with variable degrees of ophthalmoparesis and generalized, fatiguable muscle weakness since...
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