Similar articles for PMID: 10215406

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1

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. Sangiuolo F, et al. Hum Mutat. 1998;11(4):331. doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3. Hum Mutat. 1998. PMID: 10215406

2

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.

Sun C, Tranebjaerg L, Torbergsen T, Holmgren G, Van Ghelue M. Sun C, et al. Eur J Hum Genet. 2001 Dec;9(12):903-9. doi: 10.1038/sj.ejhg.5200736. Eur J Hum Genet. 2001. PMID: 11840191

3

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. Dunø M, et al. Eur J Hum Genet. 2004 Sep;12(9):738-43. doi: 10.1038/sj.ejhg.5201218. Eur J Hum Genet. 2004. PMID: 15162127

4

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. Brugnoni R, et al. Hum Mutat. 1999 Nov;14(5):447. doi: 10.1002/(SICI)1098-1004(199911)14:5<447::AID-HUMU13>3.0.CO;2-Z. Hum Mutat. 1999. PMID: 10533075

5

[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].

Ivanova EA, Dadali EL, Fedotov VP, Kurbatov SA, Rudenskaia GE, Proskokova TN, Poliakov AV. Ivanova EA, et al. Genetika. 2012 Sep;48(9):1113-23. Genetika. 2012. PMID: 23113340 Russian.

6

Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.

Lyons MJ, Duron R, Molinero I, Sangiuolo F, Holden KR. Lyons MJ, et al. Pediatr Neurol. 2010 May;42(5):365-8. doi: 10.1016/j.pediatrneurol.2010.01.014. Pediatr Neurol. 2010. PMID: 20399394

7

Novel CLCN1 mutations in Taiwanese patients with myotonia congenita.

Jou SB, Chang LI, Pan H, Chen PR, Hsiao KM. Jou SB, et al. J Neurol. 2004 Jun;251(6):666-70. doi: 10.1007/s00415-004-0383-6. J Neurol. 2004. PMID: 15311340

8

Myotonia congenita: novel mutations in CLCN1 gene.

Liu XL, Huang XJ, Shen JY, Zhou HY, Luan XH, Wang T, Chen SD, Wang Y, Tang HD, Cao L. Liu XL, et al. Channels (Austin). 2015;9(5):292-8. doi: 10.1080/19336950.2015.1075676. Epub 2015 Aug 11. Channels (Austin). 2015. PMID: 26260254 Free PMC article.

9

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. Chen L, et al. Muscle Nerve. 2004 May;29(5):670-6. doi: 10.1002/mus.20005. Muscle Nerve. 2004. PMID: 15116370

10

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita.

Zhang J, George AL Jr, Griggs RC, Fouad GT, Roberts J, Kwieciński H, Connolly AM, Ptácek LJ. Zhang J, et al. Neurology. 1996 Oct;47(4):993-8. doi: 10.1212/wnl.47.4.993. Neurology. 1996. PMID: 8857733

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