MUSK, a new target for mutations causing congenital myasthenic syndrome-Reference-Cited by-同舟云学术

MUSK, a new target for mutations causing congenital myasthenic syndrome

Published:2004-10-20 Issue:24 Volume:13 Page:3229-3240
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Chevessier Frédéric,Faraut Brice,Ravel-Chapuis Aymeric,Richard Pascale,Gaudon Karen,Bauché Stéphanie,Prioleau Cassandra,Herbst Ruth,Goillot Evelyne,Ioos Christine,Azulay Jean-Philippe,Attarian Shahram,Leroy Jean-Paul,Fournier Emmanuel,Legay Claire,Schaeffer Laurent,Koenig Jeanine,Fardeau Michel,Eymard Bruno,Pouget Jean,Hantaï Daniel

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/13/24/3229/2090444/ddh333.pdf

Reference32 articles.

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2. Hantaï, D., Richard, P., Koenig, J. and Eymard, B. (2004) Congenital myasthenic syndromes. Curr. Opin. Neurol., 17, 539–551.

3. Ohno, K., Engel, A.G., Shen, X.M., Selcen, D., Brengman, J., Harper, C.M., Tsujino, A. and Milone, M. (2002) Rapsyn mutations in humans cause neuromuscular junction acetylcholine-receptor deficiency and myasthenic syndrome. Am. J. Hum. Genet., 70, 875–885.

4. Richard, P., Gaudon, K., Andreux, F., Yasaki, E., Prioleau, C., Bauché, S., Barois, A., Ioos, C., Mayer, M., Routon, M.C. et al. (2003) Possible founder effect of rapsyn-N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. J. Med. Genet., 40, e81.

5. Gautam, M., Noakes, P.G., Mudd, J., Nichol, M., Chu, G.C., Sanes, J.R. and Merlie, J.P. (1995) Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice. Nature, 377, 232–236.

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