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24. Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia. Furby A, Vicart S, Camdessanché JP, Fournier E, Chabrier S, Lagrue E, Paricio C, Blondy P, Touraine R, Sternberg D, Fontaine B. Neuromuscul Disord; 2014 Nov; 24(11):953-9. PubMed ID: 25088311 [Abstract] [Full Text] [Related]
25. Characterization of two new dominant ClC-1 channel mutations associated with myotonia. Grunnet M, Jespersen T, Colding-Jørgensen E, Schwartz M, Klaerke DA, Vissing J, Olesen SP, Dunø M. Muscle Nerve; 2003 Dec; 28(6):722-32. PubMed ID: 14639587 [Abstract] [Full Text] [Related]
26. Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita. Souza LS, Calyjur P, Ribeiro AF, Gurgel-Giannetti J, Pavanello RCM, Zatz M, Vainzof M. J Mol Neurosci; 2021 Nov; 71(11):2275-2280. PubMed ID: 33464536 [Abstract] [Full Text] [Related]
36. [A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene]. Nakamura Y, Sato H, Kakiuchi K, Miyano Y, Hosokawa T, Arawaka S. Rinsho Shinkeigaku; 2024 May 24; 64(5):344-348. PubMed ID: 38644209 [Abstract] [Full Text] [Related]
38. Gene symbol: CLCN1. Disease: Myotonia congenita. Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T. Hum Genet; 2008 Feb 24; 123(1):104-5. PubMed ID: 18386321 [No Abstract] [Full Text] [Related]
39. Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene. Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T. Rev Biol Trop; 2008 Mar 24; 56(1):1-11. PubMed ID: 18624224 [Abstract] [Full Text] [Related]