Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome

Congenital myasthenic syndromes (CMSs) stem from genetic defects in endplate (EP)-specific presynaptic, synaptic, and postsynaptic proteins. The postsynaptic CMSs identified to date stem from a deficiency or kinetic abnormality of the acetylcholine receptor (AChR). All CMSs with a kinetic abnormalit...

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Main Authors: Ohno, Kinji, Engel, Andrew G., Shen, Xin-Ming, Selcen, Duygu, Brengman, Joan, Harper, C. Michel, Tsujino, Akira, Milone, Margherita
Formáid: Artigo
Teanga:Inglês
Foilsithe: The American Society of Human Genetics 2002
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Articles
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC379116/
https://ncbi.nlm.nih.gov/pubmed/11791205
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