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Journal Abstract Search

266 related items for PubMed ID: 19697366

  • 1. 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. PubMed ID: 19697366
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  • 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. PubMed ID: 23225051
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  • 3. Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation.
    Chang TY, Kuo HC, Hsiao KM, Huang CC.
    Acta Neurol Taiwan; 2007 Dec; 16(4):214-20. PubMed ID: 18220014
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  • 4. Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.
    Gurgel-Giannetti J, Senkevics AS, Zilbersztajn-Gotlieb D, Yamamoto LU, Muniz VP, Pavanello RC, Oliveira AB, Zatz M, Vainzof M.
    Muscle Nerve; 2012 Feb; 45(2):279-83. PubMed ID: 22246887
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  • 5. 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. PubMed ID: 11840191
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  • 6. 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. PubMed ID: 20399394
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  • 8. 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. PubMed ID: 15311340
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  • 11. 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. PubMed ID: 16629771
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  • 12. 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. PubMed ID: 10533075
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  • 14. 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. PubMed ID: 15162127
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  • 15. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
    George AL, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC.
    Nat Genet; 1993 Apr; 3(4):305-10. PubMed ID: 7981750
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  • 16. Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.
    Sun C, Van Ghelue M, Tranebjærg L, Thyssen F, Nilssen Ø, Torbergsen T.
    Clin Genet; 2011 Dec; 80(6):574-80. PubMed ID: 21204798
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  • 17. 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. PubMed ID: 15116370
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  • 18. Dosage effect of a dominant CLCN1 mutation: a novel syndrome.
    Bernard G, Poulin C, Puymirat J, Sternberg D, Shevell M.
    J Child Neurol; 2008 Feb; 23(2):163-6. PubMed ID: 18263754
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  • 19. 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. PubMed ID: 22197188
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  • 20. Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
    Colding-Jørgensen E, DunØ M, Schwartz M, Vissing J.
    Muscle Nerve; 2003 Apr; 27(4):449-55. PubMed ID: 12661046
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