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

By Engel Andrew G.   Ohno Kinji   Milone Margherita   Wang Hai-Long   Nakano Satoshi   Bouzat Cecilia   Pruitt J. Ned   Hutchinson David O.   Brengman Joan M.   Bren Nina   Sieb Joern P.   Sine Steven M.  

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

Oxford University Press

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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

By Ohno Kinji  

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

Oxford University Press

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MUSK , a new target for mutations causing congenital myasthenic syndrome

By Chevessier Frédéric  

Human Molecular Genetics, Vol. 13, Iss. 24, 2004-12 ,pp. : 3229-3240

Oxford University Press

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Mutations in the beta-subunit of the epithelial Na + channel in patients with a cystic fibrosis-like syndrome

By Sheridan Molly B.  

Human Molecular Genetics, Vol. 14, Iss. 22, 2005-11 ,pp. : 3493-3498

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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