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

By Ealing J.  

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

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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Compound heterozygosity and nonsense mutations in the α-subunit of the inhibitory glycine receptor in hyperekplexia

By Rees Mark   Lewis Trevor   Vafa Behnaz   Ferrie Colin   Corry Peter   Muntoni Fransesco   Jungbluth Heinz   Stephenson John   Kerr Mike   Snell Russell   Schofield Peter   Owen Michael  

Human Genetics, Vol. 109, Iss. 3, 2001-09 ,pp. : 267-270

Springer Publishing Company

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