Citations for
1RAPSN, MPTLT2, CHRNA1, CHRNB1, CHRND
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER.
Am J Hum Genet 82(1):222-7. 2008
2MPTLT3, MPTLT4, CHRNA1, CHRND
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Kšrber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K.
Am J Hum Genet 82(2):464-76. 2008
3CHRND
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.
MŸller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, LochmŸller H, Abicht A.
Brain 129(Pt 10):2784-93. Epub 2006 Aug 17. 2006
4CHRND
Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms.
Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J.
Ann Neurol 51(1):102-12. 2002
5CHRND
Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.
Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG.
Neurology 59(12):1881-8. 2002
6CHRND
Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.
Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D.
J Clin Invest 108(1):125-30. 2001
7CHRNA1, CHRNB1, CHRNE, CMS2E, CMS2A1, CMS2B, CHRND
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM.
Hum Mol Genet 5 : 1217-1227. 1996
8CHRND
Dinucleotide repeat polymorphism at the CHRND locus.
Landa BL, et al.
Hum Mol Genet 3 : 1445. 1994
9CHRNA1, CHRNB1, CHRND, CHRNG
Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17.
Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J.
Ann Hum Genet 54(Pt 3):199-208. 1990
10CHRND, CHRNG
Linkage disequilibrium study of RFLPs detected ay the human muscle nicotinic acetylcholine receptor subunit genes.
Lobos EA, Rudnick CH, Watson MS, Isenberg KE.
Am J Hum Genet 44 : 522-533. 1989
11CHRNG, CHRND
Localisation of the human acetylcholine receptor gamma subunit gene to 2q32-qter.
Cohen-Haguenauer O, et al.
(HGM9) Cytogenet Cell Genet 46 : 595. 1987