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5. Exon 17 skipping in CLCN1 leads to recessive myotonia congenita. Chen L; Schaerer M; Lu ZH; Lang D; Joncourt F; Weis J; Fritschi J; Kappeler L; Gallati S; Sigel E; Burgunder JM Muscle Nerve; 2004 May; 29(5):670-6. PubMed ID: 15116370 [TBL] [Abstract][Full Text] [Related]
6. Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. Fialho D; Schorge S; Pucovska U; Davies NP; Labrum R; Haworth A; Stanley E; Sud R; Wakeling W; Davis MB; Kullmann DM; Hanna MG Brain; 2007 Dec; 130(Pt 12):3265-74. PubMed ID: 17932099 [TBL] [Abstract][Full Text] [Related]
7. Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier. Marinakis NM; Svingou M; Papadimas GK; Papadopoulos C; Chroni E; Pons R; Pavlou E; Sarmas I; Kosma K; Apostolou P; Sofocleous C; Traeger-Synodinos J; Kekou K Muscle Nerve; 2024 Aug; 70(2):240-247. PubMed ID: 38855810 [TBL] [Abstract][Full Text] [Related]
8. Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. Zhang J; George AL; Griggs RC; Fouad GT; Roberts J; Kwieciński H; Connolly AM; Ptácek LJ Neurology; 1996 Oct; 47(4):993-8. PubMed ID: 8857733 [TBL] [Abstract][Full Text] [Related]
9. Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. Sun C; Tranebjaerg L; Torbergsen T; Holmgren G; Van Ghelue M Eur J Hum Genet; 2001 Dec; 9(12):903-9. PubMed ID: 11840191 [TBL] [Abstract][Full Text] [Related]
10. CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. Skálová D; Zídková J; Voháňka S; Mazanec R; Mušová Z; Vondráček P; Mrázová L; Kraus J; Réblová K; Fajkusová L PLoS One; 2013; 8(12):e82549. PubMed ID: 24349310 [TBL] [Abstract][Full Text] [Related]
11. Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita. Brugnoni R; Galantini S; Confalonieri P; Balestrini MR; Cornelio F; Mantegazza R Hum Mutat; 1999 Nov; 14(5):447. PubMed ID: 10533075 [TBL] [Abstract][Full Text] [Related]
12. [Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita]. Chen ZT; He J; Chen WJ; Chen SG; Lin JL; Ye QY; Huang HP Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):690-2. PubMed ID: 23225051 [TBL] [Abstract][Full Text] [Related]
13. Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita. Gao F; Ma FC; Yuan ZF; Yang CW; Li HF; Xia ZZ; Shui QX; Jiang KW Neurol India; 2010; 58(5):743-6. PubMed ID: 21045501 [TBL] [Abstract][Full Text] [Related]
15. Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions. Tincheva S; Georgieva B; Todorov T; Savov A; Tsaneva S; Litvinenko I; Mitev V; Todorova A Neuromuscul Disord; 2016 Oct; 26(10):675-680. PubMed ID: 27614575 [TBL] [Abstract][Full Text] [Related]
16. [Analysis of CLCN1 gene mutations in a family affected with myotonia congenita]. Jing F; Li H; Yang D; Chen T; Liu Y; Yu L Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Jun; 35(3):400-402. PubMed ID: 29896741 [TBL] [Abstract][Full Text] [Related]
17. Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita. Kuo HC; Hsiao KM; Chang LI; You TH; Yeh TH; Huang CC Acta Neurol Scand; 2006 May; 113(5):342-6. PubMed ID: 16629771 [TBL] [Abstract][Full Text] [Related]
18. Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online. Sangiuolo F; Botta A; Mesoraca A; Servidei S; Merlini L; Fratta G; Novelli G; Dallapiccola B Hum Mutat; 1998; 11(4):331. PubMed ID: 10215406 [TBL] [Abstract][Full Text] [Related]
20. Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. Dunø M; Colding-Jørgensen E; Grunnet M; Jespersen T; Vissing J; Schwartz M Eur J Hum Genet; 2004 Sep; 12(9):738-43. PubMed ID: 15162127 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]