Mapping of the Familial Infantile Myasthenia (Congenital Myasthenic Syndrome Type Ia) Gene to Chromosome 17p with Evidence of Genetic Homogeneity

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Human Molecular Genetics, Vol. 6, Iss. 4, 1997-01 ,pp. : 635-640

Oxford University Press

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Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes

By Mller Juliane S.   Jepson Catherine D.   Laval Steven H.   Bushby Kate   Straub Volker   Lochmller Hanns  

Human Molecular Genetics, Vol. 19, Iss. 9, 2010-05 ,pp. : 1726-1740

Oxford University Press

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New Mutations in Acetylcholine Receptor Subunit Genes Reveal Heterogeneity in the Slow-Channel Congenital Myasthenic Syndrome

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Human Molecular Genetics, Vol. 5, Iss. 9, 1996-01 ,pp. : 1217-1227

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Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor ε Subunit Gene: Identification and Functional Characterization of Six New Mutations

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Human Molecular Genetics, Vol. 6, Iss. 5, 1997-01 ,pp. : 753-766

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Mutations in congenital myasthenic syndromes reveal an  subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR

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Human Molecular Genetics, Vol. 11, Iss. 24, 2002-09 ,pp. : 3087-3096

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