PMC Links for OMIM (Select 100730) - PMC

Select item 24272551.

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

Anne Michalk, Sigmar Stricker, Jutta Becker, Rosemarie Rupps, Tapio Pantzar, Jan Miertus, Giovanni Botta, Valeria G. Naretto, Catrin Janetzki, Nausheen Yaqoob, Claus-Eric Ott, Dominik Seelow, Dagmar Wieczorek, Britta Fiebig, Brunhilde Wirth, Markus Hoopmann, Marisa Walther, Friederike Körber, Markus Blankenburg, Stefan Mundlos, Raoul Heller, Katrin Hoffmann

Am J Hum Genet. 2008 Feb 8; 82(2): 464–476. Published online 2008 Feb 1. doi: 10.1016/j.ajhg.2007.11.006

PMCID:: PMC2427255

Abstract Article PDF–2.1M

Select item 15594922.

Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

Neil V. Morgan, Louise A. Brueton, Phillip Cox, Marie T. Greally, John Tolmie, Shanaz Pasha, Irene A. Aligianis, Hans van Bokhoven, Tamas Marton, Lihadh Al-Gazali, Jenny E. V. Morton, Christine Oley, Colin A. Johnson, Richard C. Trembath, Han G. Brunner, Eamonn R. Maher

Am J Hum Genet. 2006 Aug; 79(2): 390–395. Published online 2006 Jun 20. doi: 10.1086/506256

PMCID:: PMC1559492

Abstract Article PDF–1.4M

Select item 15594823.

Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit

Katrin Hoffmann, Juliane S. Müller, Sigmar Stricker, Andre Megarbane, Anna Rajab, Tom H. Lindner, Monika Cohen, Eliane Chouery, Lynn Adaimy, Ismat Ghanem, Valerie Delague, Eugen Boltshauser, Beril Talim, Rita Horvath, Peter N. Robinson, Hanns Lochmüller, Christoph Hübner, Stefan Mundlos

Am J Hum Genet. 2006 Aug; 79(2): 303–312. Published online 2006 Jun 20. doi: 10.1086/506257

PMCID:: PMC1559482

Abstract Article PDF–3.3M

Select item 13690944.

Acetylcholine receptor channel subtype directs the innervation pattern of skeletal muscle

Michael Koenen, Christoph Peter, Alfredo Villarroel, Veit Witzemann, Bert Sakmann

EMBO Rep. 2005 Jun; 6(6): 570–576. Published online 2005 May 20. doi: 10.1038/sj.embor.7400429

PMCID:: PMC1369094

Abstract Article PDF–295K

Select item 10841825.

Spontaneous muscle action potentials fail to develop without fetal-type acetylcholine receptors

Masazumi Takahashi, Tai Kubo, Akira Mizoguchi, C. George Carlson, Katsuaki Endo, Katsunori Ohnishi

EMBO Rep. 2002 Jul 15; 3(7): 674–681. doi: 10.1093/embo-reports/kvf128

PMCID:: PMC1084182

Abstract Article PDF–709K

Select item 2961306.

Association of neonatal myasthenia gravis with antibodies against the fetal acetylcholine receptor.

B Vernet-der Garabedian, M Lacokova, B Eymard, E Morel, M Faltin, J Zajac, O Sadovsky, M Dommergues, P Tripon, J F Bach

J Clin Invest. 1994 Aug; 94(2): 555–559. doi: 10.1172/JCI117369

PMCID:: PMC296130

Summary Page Browse PDF–778K

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