| 1 | CLC?N1, MCB, MCT
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| Truncating CLCN1 mutations in myotonia congenita: Variable patterns of inheritance.
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| Richardson RC, Tarleton JC, Bird TD, Gospe Jr SM.
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| Muscle Nerve uscle Nerve. 2013 Jul 28. doi: 10.1002/mus.23976. [Epub ahead of print]
2013
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| 2 | CLCN1, MCB, MCT
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| Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.
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| Morrow JM, Matthews E, Raja Rayan DL, Fischmann A, Sinclair CD, Reilly MM, Thornton JS, Hanna MG, Yousry TA.
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| Neuromuscul Disord 23(8):637-46. doi: 10.1016/j.nmd.2013.05.001. Epub 2013 Jun 27.
2013
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| 3 | CLCN1, MCB, MCT
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| Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels.
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| Lee TT, Zhang XD, Chuang CC, Chen JJ, Chen YA, Chen SC, Chen TY, Tang CY.
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| PLoS One 8(2):e55930. doi: 10.1371/journal.pone.0055930. Epub 2013 Feb 12.
2013
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| 4 | CLCN1, CNBP, DM2, MCB, MCT
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| Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.
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| Sun C, Van Ghelue M, Tranebjærg L, Thyssen F, Nilssen Ø, Torbergsen T.
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| Clin Genet 80(6):574-80. doi: 10.1111/j.1399-0004.2010.01616.x. Epub 2011 Jan 19.
2011
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| 5 | CLCN1, MCB, MCT
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| A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization.
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| Tsujino A, Kaibara M, Hayashi H, Eguchi H, Nakayama S, Sato K, Fukuda T, Tateishi Y, Shirabe S, Taniyama K, Kawakami A.
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| Neurosci Lett 494(2):155-60. doi: 10.1016/j.neulet.2011.03.002. Epub 2011 Mar 6.
2011
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| 6 | CLCN1, MCB, MCT
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| Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle.
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| Lueck JD, Rossi AE, Thornton CA, Campbell KP, Dirksen RT.
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| J Gen Physiol 136(6):597-613. doi: 10.1085/jgp.201010526. Epub 2010 Nov 15.
2010
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| 7 | CLCN1, MCB, MCT, PMC, SCN4A
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| In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
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| 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.
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| Eur J Hum Genet 16(8):921-9. Epub 2008 Mar 12.
2008
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| 8 | CLCN1, MCB, MCT
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| Dosage effect of a dominant CLCN1 mutation: a novel syndrome.
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| Bernard G, Poulin C, Puymirat J, Sternberg D, Shevell M.
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| J Child Neurol 23(2):163-6.PMID: 18263754 2008
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| 9 | CLCN1, MCB, MCT
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| Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix.
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| Macías MJ, Teijido O, Zifarelli G, Martin P, Ramirez-Espain X, Zorzano A, Palacín M, Pusch M, Estévez R.
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| Biochem J 403(1):79-87.
2007
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| 10 | CLCN1, MCB, MCT
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| Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression.
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| Lin MJ, You TH, Pan H, Hsiao KM.
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| Biochem Biophys Res Commun 351(4):1043-7. Epub 2006 Nov 7. 2006
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| 11 | CLCN1, MCB, MCT
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| Activity-induced weakness in recessive myotonia congenita with a novel (696+1G>A) mutation.
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| McKay OM, Krishnan AV, Davis M, Kiernan MC.
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| Clin Neurophysiol 117(9):2064-8. Epub 2006 Jul 18. 2006
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| 12 | CLCN1, MCB, MCT
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| Roles of K149, G352, and H401 in the channel functions of ClC-0: testing the predictions from theoretical calculations.
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| Zhang XD, Li Y, Yu WP, Chen TY.
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| J Gen Physiol 127(4):435-47. 2006
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| 13 | CLCN1, MCB, MCT
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| Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita.
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| Kuo HC, Hsiao KM, Chang LI, You TH, Yeh TH, Huang CC.
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| Acta Neurol Scand 113(5):342-6. 2006
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| 14 | CLCN1, MCB
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| Exon 17 skipping in CLCN1 leads to recessive myotonia congenita.
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| Chen L, Schaerer M, Lu ZH, Lang D, Joncourt F, Weis J, Fritschi J, Kappeler L, Gallati S, Sigel E, Burgunder JM.
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| Muscle Nerve 29(5):670-6. 2004
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| 15 | CLCN1, MCB
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| Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation.
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| Zhang J, Sanguinetti MC, Kwiecinski H, Ptacek LJ.
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| J Biol Chem 275(4):2999-3005. 2000
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| 16 | CLCN1, MCB
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| Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia.
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| Sasaki R, Ichiyasu H, Ito N, Ikeda T, Takano H, Ikeuchi T, Kuzuhara S, Uchino M, Tsuji S, Uyama E.
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| Neuromuscul Disord 9(8):587-92. 1999
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| 17 | CLCN1, MCB, MCT
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| CIC-1 chloride channel mutations in myotonia congenita : variable penetrance of mutations shifting the voltage dependence.
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| Kubisch C, et al.
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| Hum Mol Genet 7 : 1753-1760. 1998
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| 18 | CLCN1, MCB, MCT
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| Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.
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| Wollnik B, Kubisch C, Steinmeyer K, Pusch M.
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| Hum Mol Genet 6(5):805-11. 1997
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| 19 | CLCN1, MCB, MCT
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| Novel muscle chloride channel mutations and their effects on heterozygous carriers.
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| MailŠnder V, et al.
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| Am J Hum Genet 58 : 317-324. 1996
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| 20 | CLCN1, MCB, MCT
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| Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
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| Meyer-Kleine C, Steinmeyer K, Ricker K, Jentsch TJ, Koch MC.
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| Am J Hum Genet 57 : 1325-1334. 1995
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| 21 | CLCN1, MCB
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| A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker).
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| Meyer-Kleine C, et al.
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| Hum Mol Genet 3 : 1015-1016. 1994
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| 22 | CLCN1, MCB
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| Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
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| Lorenz C, et al.
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| Hum Mol Genet 3 : 941-946. 1994
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| 23 | CLCN1, MCB
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| Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion.
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| Heine R, et al.
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| Hum Mol Genet 3 : 1123-1128. 1994
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| 24 | CLCN1, MCB, MCT
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| Linkage and mutation analysis of Thomsen and Becker myotonia families. (abstr)
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| Koty PP, et al.
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| Am J Hum Genet 55 : A227. 1994
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| 25 | CLCN1, MCB, MCT
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| Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
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| George AL, et al.
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| Hum Mol Genet 3 : 2071-2072. 1994
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| 26 | CLCN1, MCB
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| A polymorphic dinucleotide repeat in the second intron of HUMCLC.
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| Curran M, et al.
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| Hum Mol Genet 3 : 2264. 1994
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| 27 | MCB
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| Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).
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| Koch MC, et al.
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| J Med Genet 30 : 914-917. 1993
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| 28 | CLCN1, MCB, MCT
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| The skeletal muscle chloride channel in dominant and recessive human myotonia.
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| Koch MC, et al.
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| Science 257 : 797-800. 1992
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