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Items: 1 to 20 of 183

1.

[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. doi: 10.3760/cma.j.issn.1003-9406.2012.06.014. Chinese.

PMID:
23225051
2.

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 Sep-Oct;58(5):743-6. doi: 10.4103/0028-3886.72163.

3.

Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.

Shalata A, Furman H, Adir V, Adir N, Hujeirat Y, Shalev SA, Borochowitz ZU.

Muscle Nerve. 2010 Apr;41(4):464-9. doi: 10.1002/mus.21525.

PMID:
19697366
4.

A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita.

Sasaki R, Ito N, Shimamura M, Murakami T, Kuzuhara S, Uchino M, Uyama E.

Muscle Nerve. 2001 Mar;24(3):357-63.

PMID:
11353420
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.

PMID:
15116370
6.

Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.

Lakraj AA, Miller G, Vortmeyer AO, Khokhar B, Nowak RJ, DiCapua DB.

Yale J Biol Med. 2013 Mar;86(1):101-6. Epub 2013 Mar 12.

7.

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. Erratum in: Eur J Hum Genet. 2010 Feb;18(2):264.

8.

A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.

Wijnberg ID, Owczarek-Lipska M, Sacchetto R, Mascarello F, Pascoli F, Grünberg W, van der Kolk JH, Drögemüller C.

Neuromuscul Disord. 2012 Apr;22(4):361-7. doi: 10.1016/j.nmd.2011.10.001. Epub 2011 Dec 23.

9.

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.

PMID:
16629771
10.

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.

PMID:
10533075
11.

Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.

Lyons MJ, Duron R, Molinero I, Sangiuolo F, Holden KR.

Pediatr Neurol. 2010 May;42(5):365-8. doi: 10.1016/j.pediatrneurol.2010.01.014.

PMID:
20399394
12.

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;56(1):1-11.

PMID:
18624224
13.

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. doi: 10.1016/j.nmd.2014.06.439. Epub 2014 Jul 2.

PMID:
25088311
14.

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

Trip J, Drost G, Verbove DJ, van der Kooi AJ, Kuks JB, Notermans NC, Verschuuren JJ, de Visser M, van Engelen BG, Faber CG, Ginjaar IB.

Eur J Hum Genet. 2008 Aug;16(8):921-9. doi: 10.1038/ejhg.2008.39. Epub 2008 Mar 12.

15.

Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia.

Sasaki R, Ichiyasu H, Ito N, Ikeda T, Takano H, Ikeuchi T, Kuzuhara S, Uchino M, Tsuji S, Uyama E.

Neuromuscul Disord. 1999 Dec;9(8):587-92.

PMID:
10619717
16.

Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.

Zhang J, Bendahhou S, Sanguinetti MC, Ptácek LJ.

Neurology. 2000 Feb 22;54(4):937-42.

PMID:
10690989
17.

Novel CLCN1 mutations in Taiwanese patients with myotonia congenita.

Jou SB, Chang LI, Pan H, Chen PR, Hsiao KM.

J Neurol. 2004 Jun;251(6):666-70.

PMID:
15311340
18.

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.

Plassart-Schiess E, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B.

Neurology. 1998 Apr;50(4):1176-9.

PMID:
9566422
19.

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

Moon IS, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS.

J Korean Med Sci. 2009 Dec;24(6):1038-44. doi: 10.3346/jkms.2009.24.6.1038. Epub 2009 Nov 9.

20.

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.

Channels (Austin). 2015;9(5):292-8. doi: 10.1080/19336950.2015.1075676. Epub 2015 Aug 11.

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