Congenital myasthenic syndrome due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene.

Authors	S Kraner, J-M Burgunder, K M Rösler, O K Steinlein, J P Sieb
Journal	European journal of neurology (Eur J Neurol) Vol. 9 Issue 6 Pg. 694-5 (Nov 2002) ISSN: 1351-5101 [Print] England
PMID	12453093 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
Chemical References	Codon, Nonsense Protein Subunits Receptors, Cholinergic
Topics	Adult Codon, Nonsense Female Humans Mutation, Missense Myasthenic Syndromes, Congenital (genetics) Protein Subunits Receptors, Cholinergic (genetics)

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