| 1 | CHRNE, CMS4A
|
| Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis.
|
| Santos E, Moreira I, Coutinho E, Gonçalves G, Lopes C, Lopes Lima J, Leite MI.
|
| Neuromuscul Disord 25(12):928-31. doi: 10.1016/j.nmd.2015.08.001. Epub 2015 Aug 6.
2015
|
| 2 | CHRNE, CMS4A
|
| How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia.
|
| Parr JR, Andrew MJ, Finnis M, Beeson D, Vincent A, Jayawant S.
|
| Arch Dis Child 99(6):539-42. doi: 10.1136/archdischild-2013-304788. Epub 2014 Feb 5.
2014
|
| 3 | CHRNE, CMS4A
|
| A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.
|
| Webster R, Maxwell S, Spearman H, Tai K, Beckstein O, Sansom M, Beeson D.
|
| Brain 135(Pt 4):1070-80. doi: 10.1093/brain/aws016. Epub 2012 Mar 1.
2012
|
| 4 | CHRNE, CMS4A
|
| Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.
|
| Salih MA, Oystreck DT, Al-Faky YH, Kabiraj M, Omer MI, Subahi EM, Beeson D, Abu-Amero KK, Bosley TM.
|
| J Neuroophthalmol 31(1):42-7. doi: 10.1097/WNO.0b013e3181f50bea.
2011
|
| 5 | CHRNE, CMS4A
|
| A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.
|
| Richard P, Gaudon K, Fournier E, Jackson C, Bauché S, Haddad H, Koenig J, Echenne B, Hantaï D, Eymard B.
|
| Neuromuscul Disord 17(5):409-14. Epub 2007 Mar 23.
2007
|
| 6 | CHRNE, CMS4A
|
| An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X).
|
| Soltanzadeh P, Muller JS, Ghorbani A, Abicht A, Lochmuller H, Soltanzadeh A.
|
| J Neurol Neurosurg Psychiatry 76(7):1039-40. No abstract available. 2005
|
| 7 | CHRNE, CMS4A
|
| A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.
|
| Abicht A, Stucka R, Schmidt C, Briguet A, Hopfner S, Song IH, Pongratz D, Muller-Felber W, Ruegg MA, Lochmuller H.
|
| Brain 125(Pt 5):1005-13. 2002
|
| 8 | CHRNE, CMS4A
|
| Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations.
|
| Sieb JP, Kraner S, Rauch M, Steinlein OK.
|
| Hum Genet 107(2):160-4. 2000
|
| 9 | CHRNE, CMS4A
|
| Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome.
|
| Nichols P, et al.
|
| Ann Neurol 45(4):439-43. 1999
|
| 10 | CHRNE, CMS4A
|
| A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.
|
| Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horvath R, Mortier W, Schara U, Ramaekers V, Jost W, Brunner J, Janssen G, Seidel U, Schlotter B, Muller-Felber W, Pongratz D, Rudel R, Lochmuller H.
|
| Neurology 53(7):1564-9. 1999
|
| 11 | CHRNE, CMS4A
|
| Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.
|
| Ohno K, et al.
|
| Ann Neurol 44 : 234-241. 1998
|
| 12 | CHRNE, CMS4A
|
| Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.
|
| Ohno K, Quiram PA, Milone M, Wang HL, Harper MC, Pruitt JN 2nd, Brengman JM, Pao L, Fischbeck KH, Crawford TO, Sine SM, Engel AG.
|
| Hum Mol Genet 6(5):753-66. 1997
|
| 13 | CHRNA1, CHRNB1, CHRND, CHRNE, CMS1A, CMS2B, CMS4A
|
| 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
|
| 14 | CHRNE, CMS4A
|
| Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.
|
| Ohno K, et al.
|
| Neuron 17 : 157-170. 1996
|
| 15 | CHRNE, CMS4A
|
| End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.
|
| Engel AG, et al.
|
| Ann Neurol 40 : 810-817. 1996
|
| 16 | CHRNE, CMS4A
|
| Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.
|
| Ohno K, et al.
|
| Proc Natl Acad Sci U S A 92 : 758-762. 1995
|