Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation

Author： Yasaki E.   Prioleau C.   Barbier J.   Richard P.   Andreux F.   Leroy J.-P.   Dartevelle P.   Koenig J.   Molgo J.   Fardeau M.   Eymard B.   Hantai D.  

Publisher： Elsevier

ISSN： 0960-8966

Source： Neuromuscular Disorders, Vol.14, Iss.1, 2004-01, pp. : 24-32

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Related content

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn

By Müller Juliane S.   Baumeister Sarah K.   Cossins Judy   Krause Sabine   Hagen Maja von der   Huebner Angela   Webster Richard   Beeson David   Lochmüller Hanns   Abicht Angela  

Brain, Vol. 129, Iss. 10, 2006-10 ,pp. : 2784-2793

Oxford University Press

Access to resources Recommend Favorite

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance

By Webster Richard  

Brain, Vol. 135, Iss. 4, 2012-06 ,pp. : 1070-1080

Oxford University Press

Access to resources Recommend Favorite

A newly identified chromosomal microdeletion and an N-box mutation of the AChR gene cause a congenital myasthenic syndrome

By Lochmüller H.  

Brain, Vol. 125, Iss. 5, 2002-05 ,pp. : 1005-1013

Oxford University Press

Access to resources Recommend Favorite

The Zinc Finger Domain of the 43-kDa Receptor-Associated Protein, Rapsyn: Role in Acetylcholine Receptor Clustering

By Bezakova G.   Bloch R.J.  

Molecular and Cellular Neuroscience, Vol. 11, Iss. 5, 1998-08 ,pp. : 274-288

Academic Press

Access to resources Recommend Favorite

Rapsyn and Agrin Slow the Metabolic Degradation of the Acetylcholine Receptor

By Phillips W.D.   Vladeta D.   Han H.   Noakes P.G.  

Molecular and Cellular Neuroscience, Vol. 10, Iss. 1, 1997-01 ,pp. : 16-26

Academic Press

Access to resources Recommend Favorite