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3. Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family. Matlik HN; Milhem RM; Saadeldin IY; Al-Jaibeji HS; Al-Gazali L; Ali BR Pediatr Neurol; 2014 Jul; 51(1):165-9. PubMed ID: 24938146 [TBL] [Abstract][Full Text] [Related]
4. Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature. El Kadiri Y; Ratbi I; Sefiani A; Lyahyai J BMC Neurol; 2022 Aug; 22(1):292. PubMed ID: 35932018 [TBL] [Abstract][Full Text] [Related]
5. Recurrent COLQ mutation in congenital myasthenic syndrome. Guven A; Demirci M; Anlar B Pediatr Neurol; 2012 Apr; 46(4):253-6. PubMed ID: 22490774 [TBL] [Abstract][Full Text] [Related]
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18. Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency. Sigoillot SM; Bourgeois F; Karmouch J; Molgó J; Dobbertin A; Chevalier C; Houlgatte R; Léger J; Legay C FASEB J; 2016 Jun; 30(6):2382-99. PubMed ID: 26993635 [TBL] [Abstract][Full Text] [Related]
19. Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis. Duran GS; Uzunhan TA; Ekici B; Çıtak A; Aydınlı N; Çalışkan M Acta Neurol Belg; 2013 Dec; 113(4):531-2. PubMed ID: 23371844 [No Abstract] [Full Text] [Related]
20. Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene. Müller JS; Petrova S; Kiefer R; Stucka R; König C; Baumeister SK; Huebner A; Lochmüller H; Abicht A Neuropediatrics; 2004 Jun; 35(3):183-9. PubMed ID: 15248101 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]