| 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, MCT
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| Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1.
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| Richman DP, Yu Y, Lee TT, Tseng PY, Yu WP, Maselli RA, Tang CY, Chen TY.
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| Neuromolecular Med 14(4):328-37. doi: 10.1007/s12017-012-8190-1. Epub 2012 Jul 12.
2012
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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | 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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| 13 | 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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| 14 | 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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| 15 | CLCN1, MCT
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| Characterization of two new dominant ClC-1 channel mutations associated with myotonia.
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| Grunnet M, Jespersen T, Colding-Jorgensen E, Schwartz M, Klaerke DA, Vissing J, Olesen SP, Duno M.
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| Muscle Nerve 28(6):722-32. 2003
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| 16 | CLCN1, MCT
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| Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families.
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| de Diego C, Gamez J, Plassart-Schiess E, Lasa A, Del Rio E, Cervera C, Baiget M, Gallano P, Fontaine B.
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| J Neurol 246(9):825-9 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, MCT
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| A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.
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| Fahlke C, et al.
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| Proc Natl Acad Sci U S A 94 : 2729-2734. 1997
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| 19 | CLCN1, MCT
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| Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family.
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| Sloan-Brown K, et al.
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| Neurology 48 : 542-543. 1997
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| 20 | 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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| 21 | 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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| 22 | 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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| 23 | MCT, CLCN1
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| Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.
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| Pusch M, et al.
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| Neuron 15 : 1455-1463. 1995
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| 24 | MCT, CLCN1
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| Myotonia levior is a chloride channel disorder.
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| Lehmann-Horn F, et al.
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| Hum Mol Genet 4 : 1397-1402. 1995
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| 25 | CLCN1, MCT
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| Multimeric structure of CIC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
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| Steinmeyer K, et al.
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| EMBO J 13 : 737-743. 1994
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| 26 | 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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| 27 | 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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| 28 | MCT, CLCN1
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| Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
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| George AL, et al.
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| Nat Genet 3 : 305-309. 1993
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| 29 | MCT
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| Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35.
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| Abdalla JA, et al.
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| Am J Hum Genet 51 : 579-584. 1992
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| 30 | 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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