Mutations in MUSK causing congenital myasthenic syndrome impair MuSKDok-7 interaction

By Maselli Ricardo A.   Arredondo Juan   Cagney rla   Ng Jarae J.   Anderson Jennifer A.   Williams Colette   Gerke Bae J.   Soliven Betty   Wollmann Robert L.  

Human Molecular Genetics, Vol. 19, Iss. 12, 2010-06 ,pp. : 2370-2379

Oxford University Press

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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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E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome

By Ohno K.  

Human Molecular Genetics, Vol. 12, Iss. 7, 2003-04 ,pp. : 739-748

Oxford University Press

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Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor α Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome

By Croxen Rebecca  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-05 ,pp. : 767-774

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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