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Items: 1 to 20 of 172

1.

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.

2.

[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
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.

Eur J Hum Genet. 2004 Sep;12(9):738-43.

4.

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
5.

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
6.

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
7.

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 Dec 11;8(12):e82549. doi: 10.1371/journal.pone.0082549. eCollection 2013.

8.

Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo.

Borges AS, Barbosa JD, Resende LA, Mota LS, Amorim RM, Carvalho TL, Garcia JF, Oliveira-Filho JP, Oliveira CM, Souza JE, Winand NJ.

Neuromuscul Disord. 2013 Mar;23(3):206-13. doi: 10.1016/j.nmd.2012.11.008. Epub 2013 Jan 20.

PMID:
23339992
9.

Novel CLCN1 mutations with unique clinical and electrophysiological consequences.

Wu FF, Ryan A, Devaney J, Warnstedt M, Korade-Mirnics Z, Poser B, Escriva MJ, Pegoraro E, Yee AS, Felice KJ, Giuliani MJ, Mayer RF, Mongini T, Palmucci L, Marino M, Rüdel R, Hoffman EP, Fahlke C.

Brain. 2002 Nov;125(Pt 11):2392-407.

PMID:
12390967
10.

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.

11.

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
12.

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
13.

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
14.

A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.

Kumar KR, Ng K, Vandebona H, Davis MR, Sue CM.

Muscle Nerve. 2010 Mar;41(3):412-5. doi: 10.1002/mus.21610.

PMID:
20120005
15.

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
16.

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
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.

PMID:
16629771
18.

A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris.

Zielonka D, Jurkat-Rott K, Stachowiak P, Bryl A, Marcinkowski JT, Lehmann-Horn F.

Neuromuscul Disord. 2012 Apr;22(4):355-60. doi: 10.1016/j.nmd.2011.10.024. Epub 2011 Dec 23.

PMID:
22197187
19.

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
20.

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.

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