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bibliographicCitation Schmidt C, Abicht A, Krampfl K, Voss W, Stucka R, Mildner G, Petrova S, Schara U, Mortier W, Bufler J, Huebner A, Lochmüller H. Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. Neuromuscul Disord. 2003 Mar;13(3):245–51. doi: 10.1016/s0960-8966(02)00273-0. PMID: 12609506.
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title Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase
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