2,050
Views
18
CrossRef citations to date
0
Altmetric
Research Paper

Myotonia congenita: novel mutations in CLCN1 gene

, , , , , , , , & show all
Pages 292-298 | Received 27 May 2015, Accepted 17 Jul 2015, Published online: 01 Sep 2015

References

  • Lossin C, George AL, Jr. Myotonia congenita. Adv Genet 2008; 63:25-55; PMID:19185184; http://dx.doi.org/10.1016/S0065-2660(08)01002-X
  • Matthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D, Fontaine B, Amato AA, Barohn RJ, Griggs RC, et al. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain 2010; 133:9-22; PMID:19917643; http://dx.doi.org/10.1093/brain/awp294
  • Fialho D, Schorge S, Pucovska U, Davies NP, Labrum R, Haworth A, Stanley E, Sud R, Wakeling W, Davis MB, et al. Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. Brain 2007; 130:3265-74; PMID:17932099; http://dx.doi.org/10.1093/brain/awm248
  • Trivedi JR, Cannon SC, Griggs RC. Nondystrophic myotonia: challenges and future directions. Exp Neurol 2014; 253:28-30; PMID:24361411; http://dx.doi.org/10.1016/j.expneurol.2013.12.005
  • Lorenz C, Meyer-Kleine C, Steinmeyer K, Koch MC, Jentsch TJ. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum Mol Genet 1994; 3:941-6; PMID:7951242; http://dx.doi.org/10.1093/hmg/3.6.941
  • Brugnoni R, Kapetis D, Imbrici P, Pessia M, Canioni E, Colleoni L, de Rosbo NK, Morandi L, Cudia P, Gashemi N, et al. A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. J Hum Genet 2013; 58:581-7; PMID:23739125; http://dx.doi.org/10.1038/jhg.2013.58
  • Dutzler R, Campbell EB, Cadene M, Chait BT, MacKinnon R. X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 2002; 415:287-94; PMID:11796999; http://dx.doi.org/10.1038/415287a
  • Ponting CP. CBS domains in CIC chloride channels implicated in myotonia and nephrolithiasis (kidney stones). J Mol Med (Berl) 1997; 75:160-3; PMID:9106071; http://dx.doi.org/10.1007/s001090050166
  • Stoelting G, Fischer M, Fahlke C. CLC channel function and dysfunction in health and disease. Front Physiol 2014; 5:378; PMID:25339907; http://dx.doi.org/10.3389/fphys.2014.00378
  • Colding-Jorgensen E. Phenotypic variability in myotonia congenita. Muscle & nerve 2005; 32:19-34; PMID:15786415; http://dx.doi.org/10.1002/mus.20295
  • Gao F, Ma FC, Yuan ZF, Yang CW, Li HF, Xia ZZ, Shui QX, Jiang KW. Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita. Neurol India 2010; 58:743-6; PMID:21045501; http://dx.doi.org/10.4103/0028-3886.60385
  • Mailander V, Heine R, Deymeer F, Lehmann-Horn F. Novel muscle chloride channel mutations and their effects on heterozygous carriers. Am J Hum Genet 1996; 58:317-24; PMID:8571958
  • Deymeer F, Cakirkaya S, Serdaroglu P, Schleithoff L, Lehmann-Horn F, Rudel R, Ozdemir C. Transient weakness and compound muscle action potential decrement in myotonia congenita. Muscle & nerve 1998; 21:1334-7; PMID:9736066; http://dx.doi.org/10.1002/(SICI)1097-4598(199810)21:10%3c1334::AID-MUS16%3e3.0.CO;2-1
  • Plassart-Schiess E, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B. Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. Neurology 1998; 50:1176-9; PMID:9566422; http://dx.doi.org/10.1212/WNL.50.4.1176
  • Kubisch C, Schmidt-Rose T, Fontaine B, Bretag AH, Jentsch TJ. ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. Hum Mol Genet 1998; 7:1753-60; PMID:9736777; http://dx.doi.org/10.1093/hmg/7.11.1753
  • Kuo HC, Hsiao KM, Chang LI, You TH, Yeh TH, Huang CC. Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita. Acta neurologica Scandinavica 2006; 113:342-6; PMID:16629771; http://dx.doi.org/10.1111/j.1600-0404.2006.00589.x
  • Wollnik B, Kubisch C, Steinmeyer K, Pusch M. Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations. Hum Mol Genet 1997; 6:805-11; PMID:9158157; http://dx.doi.org/10.1093/hmg/6.5.805
  • Moon IS, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS. Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita. J Korean Med Sci 2009; 24:1038-44; PMID:19949657; http://dx.doi.org/10.3346/jkms.2009.24.6.1038
  • Sasaki R, Takahashi MP, Kokunai Y, Hirayama M, Ibi T, Tomimoto H, Mochizuki H, Sahashi K. ; Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease. Rinsho shinkeigaku 2013; 53:316-9; PMID:23603549; http://dx.doi.org/10.5692/clinicalneurol.53.316
  • Nam TS, Jung HJ, Choi SY, Kim YO, Kim MK, Cho KH. Clinical Characteristics and Analysis of CLCN1 in Patients with “EMG Disease”. J Clin Neurol 2012; 8:212-7; PMID:23091531; http://dx.doi.org/10.3988/jcn.2012.8.3.212
  • Ivanova EA, Dadali EL, Fedotov VP, Kurbatov SA, Rudenskaia GE, Proskokova TN, Poliakov AV. ; The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias. Genetika 2012; 48:1113-23; PMID:23113340
  • Sangiuolo F, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B. 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. Hum mutat 1998; 11:331; PMID:10215406; http://dx.doi.org/10.1002/(SICI)1098-1004(1998)11:4%3c331::AID-HUMU13%3e3.0.CO;2-0
  • Pusch M. Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Hum Mutat 2002; 19:423-34; PMID:11933197; http://dx.doi.org/10.1002/humu.10063
  • Gurgel-Giannetti J, Senkevics AS, Zilbersztajn-Gotlieb D, Yamamoto LU, Muniz VP, Pavanello RC, Oliveira AB, Zatz M, Vainzof M. Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype. Muscle & Nerve 2012; 45:279-83; PMID:22246887; http://dx.doi.org/10.1002/mus.22252
  • Bernard G, Poulin C, Puymirat J, Sternberg D, Shevell M. Dosage effect of a dominant CLCN1 mutation: a novel syndrome. J Child Neurol 2008; 23:163-6; PMID:18263754; http://dx.doi.org/10.1177/0883073807307974
  • Arzel-Hezode M, Sternberg D, Tabti N, Vicart S, Goizet C, Eymard B, Fontaine B, Fournier E. Homozygosity for dominant mutations increases severity of muscle channelopathies. Muscle & nerve 2010; 41:470-7; PMID:19882638; http://dx.doi.org/10.1002/mus.21520
  • Wu FF, Ryan A, Devaney J, Warnstedt M, Korade-Mirnics Z, Poser B, Escriva MJ, Pegoraro E, Yee AS, Felice KJ, et al. Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Brain 2002; 125:2392-407; PMID:12390967; http://dx.doi.org/10.1093/brain/awf246
  • Hoche F, Seidel K, Barbosa-Sicard E, Heidegger T, Kang JS, Koenig R, Kieslich M. Novel N-terminal truncating CLCN1 mutation in severe Becker disease. Muscle & nerve 2014; 50:866-7; PMID:24920213; http://dx.doi.org/10.1002/mus.24312
  • Mazon MJ, Barros F, De la Pena P, Quesada JF, Escudero A, Cobo AM, Pascual-Pascual SI, Gutiérrez-Rivas E, Guillén E, Arpa J, et al. Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. Neuromuscul Disord 2012; 22:231-43; PMID:22094069; http://dx.doi.org/10.1016/j.nmd.2011.10.013
  • George AL, Jr., Crackower MA, Abdalla JA, Hudson AJ, Ebers GC. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet 1993; 3:305-10; PMID:7981750; http://dx.doi.org/10.1038/ng0493-305
  • Fahlke C, Beck CL, George AL. A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. Proc Natl Acad Sci U S A 1997; 94:2729-34; PMID:9122265; http://dx.doi.org/10.1073/pnas.94.6.2729
  • Fahlke C, Yu HT, Beck CL, Rhodes TH, George AL. Pore-forming segments in voltage-gated chloride channels. Nature 1997; 390:529-32; PMID:9394005; http://dx.doi.org/10.1038/37391
  • Chang TY, Kuo HC, Hsiao KM, Huang CC. Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation. Acta neurologica Taiwanica 2007; 16:214-20; PMID:18220014

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.