| 1 | CMS1C, COLQ
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| Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene.
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| Luo X, Wang C, Lin L, Yuan F, Wang S, Wang Y, Wang A, Wang C, Wu S, Lan X, Xu Q, Yin R, Cheng H, Zhang Y, Xi J, Zhang J, Sun X, Yan J, Zeng F, Chen Y.
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| Front Pediatr. Nov 29;9:679342. doi: 10.3389/fped.2021.679342. eCollection 2021. 2021
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| 2 | CMS1C, COLQ
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| The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein
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| Laforgia N, De Cosmo L, Palumbo O, Ranieri C, Sesta M, Capodiferro D, Pantaleo A, Iapicca P, Lastella P, Capozza M, Schettini F, Bukvic N, Bagnulo R, Resta N.
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| Genes (Basel) 2020 Dec 18;11(12):1519. doi: 10.3390/genes11121519 2020
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| 3 | CMS1C, COLQ
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| Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.
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| Yeung WL, Lam CW, Ng PC.
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| Dev Med Child Neurol ev Med Child Neurol. 2010 Mar 29. [Epub ahead of print] No abstract available. PMID: 20370815 2010
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| 4 | CMS1C, COLQ
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| Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
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| Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H.
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| Brain 131(Pt 3):747-59. Epub 2008 Jan 7.PMID: 18180250 2008
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| 5 | CMS1C, COLQ
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| Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.
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| Schreiner F, Hoppenz M, Klaeren R, Reimann J, Woelfle J.
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| Neuromuscul Disord 17(3):262-5. Epub 2007 Feb 14.
2007
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| 6 | COLQ, CMS1C
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| Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.
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| Muller JS, Petrova S, Kiefer R, Stucka R, Konig C, Baumeister SK, Huebner A, Lochmuller H, Abicht A.
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| Neuropediatrics 35(3):183-9. 2004
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| 7 | COLQ, CMS1c
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| Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.
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| Ishigaki K, Nicolle D, Krejci E, Leroy JP, Koenig J, Fardeau M, Eymard B, Hantai D.
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| Neuromuscul Disord 13(3):236-44. 2003
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| 8 | CMS1C
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| The spectrum of mutations causing end-plate acetylcholinesterase deficiency.
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| Ohno K, Engel AG, Brengman JM, Shen XM, Heidenreich F, Vincent A, Milone M, Tan E, Demirci M, Walsh P, Nakano S, Akiguchi I.
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| Ann Neurol 47(2):162-70. Erratum in: Ann Neurol 2000 Apr;47(4):554. 2000
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| 9 | CMS1C, COLQ
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| Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?
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| Ohno K, et al.
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| Am J Hum Genet 65(3):635-44 1999
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| 10 | CMS1C, COLQ
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| Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (type Ic).
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| Donger C, Krejci E, Serradell AP, Eymard B, Bon S, Nicole S, Chateau D, Gary F, Fardeau M, Massoulie J, Guicheney P.
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| Am J Hum Genet 63 : 967-975. 1998
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| 11 | CMS1C
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| Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.
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| Ohno K, Brengman J, Tsujino A, Engel AG.
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| Proc Natl Acad Sci U S A 95(16):9654-9. 1998
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