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There are 19259 results for: content related to: Myotonia congenita in a patient who presented with diplopia and ptosis

  1. Phenotypic variability in myotonia congenita

    Muscle & Nerve

    Volume 32, Issue 1, July 2005, Pages: 19–34, Eskild Colding-Jørgensen

    Article first published online : 22 MAR 2005, DOI: 10.1002/mus.20295

  2. Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene

    Clinical Genetics

    Volume 80, Issue 6, December 2011, Pages: 574–580, C Sun, M Van Ghelue, L Tranebjærg, F Thyssen, Ø Nilssen and T Torbergsen

    Article first published online : 19 JAN 2011, DOI: 10.1111/j.1399-0004.2010.01616.x

  3. 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

    Muscle & Nerve

    Volume 41, Issue 4, April 2010, Pages: 464–469, Adel Shalata, Haya Furman, Vardit Adir, Noam Adir, Yasir Hujeirat, Stavit A. Shalev and Zvi U. Borochowitz

    Article first published online : 20 AUG 2009, DOI: 10.1002/mus.21525

  4. You have free access to this content
    Myotonia caused by mutations in the muscle chloride channel gene CLCN1

    Human Mutation

    Volume 19, Issue 4, April 2002, Pages: 423–434, Michael Pusch

    Article first published online : 18 MAR 2002, DOI: 10.1002/humu.10063

  5. A Novel Mutation of the CLCN1 Gene Associated with Myotonia Hereditaria in an Australian Cattle Dog

    Journal of Veterinary Internal Medicine

    Volume 21, Issue 3, May 2007, Pages: 458–463, Daniel F. Finnigan, W.J. Brad Hanna, Roberto Poma and Andrew J. Bendall

    Article first published online : 5 FEB 2008, DOI: 10.1111/j.1939-1676.2007.tb02990.x

  6. The diagnosis and treatment of myotonic disorders

    Muscle & Nerve

    Volume 47, Issue 5, May 2013, Pages: 632–648, Chad R. Heatwole, Jeffrey M. Statland and Eric L. Logigian

    Article first published online : 27 MAR 2013, DOI: 10.1002/mus.23683

  7. Genetic disorders of neuromuscular ion channels

    Muscle & Nerve

    Volume 26, Issue 3, September 2002, Pages: 299–325, Kleopas A. Kleopa and Robert L. Barchi

    Article first published online : 5 JUN 2002, DOI: 10.1002/mus.10164

  8. A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita

    Muscle & Nerve

    Volume 24, Issue 3, March 2001, Pages: 357–363, R. Sasaki, N. Ito, M. Shimamura, T. Murakami, S. Kuzuhara, M. Uchino and E. Uyama

    Article first published online : 9 FEB 2001, DOI: 10.1002/1097-4598(200103)24:3<357::AID-MUS1006>3.0.CO;2-E

  9. The dominant chloride channel mutant G200R causing fluctuating myotonia: Clinical findings, electrophysiology, and channel pathology

    Muscle & Nerve

    Volume 21, Issue 9, September 1998, Pages: 1122–1128, Susanne Wagner, Feza Deymeer, Lothar L. Kürz, Sandra Benz, Lothar Schleithoff, Frank Lehmann-Horn, Piraye Serdaroğlu, Coskun Özdemir and Reinhardt Rüdel

    Article first published online : 7 DEC 1998, DOI: 10.1002/(SICI)1097-4598(199809)21:9<1122::AID-MUS2>3.0.CO;2-9

  10. Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype

    Muscle & Nerve

    Volume 45, Issue 2, February 2012, Pages: 279–283, Juliana Gurgel-Giannetti, Adriano S. Senkevics, Dinorah Zilbersztajn-Gotlieb, Lydia U. Yamamoto, Viviane P. Muniz, Rita C.M. Pavanello, Acary B. Oliveira, Mayana ZATZ and Mariz Vainzof

    Article first published online : 12 JAN 2012, DOI: 10.1002/mus.22252

  11. Drug treatment for myotonia

    Intervention Review

    The Cochrane Library

    Jeroen Trip, Gea G Drost, Baziel GM van Engelen and C G Faber

    Published Online : 25 JAN 2006, DOI: 10.1002/14651858.CD004762.pub2

  12. Truncating CLCN1 mutations in myotonia congenita: Variable patterns of inheritance

    Muscle & Nerve

    Volume 49, Issue 4, April 2014, Pages: 593–600, Randal C. Richardson, Jack C. Tarleton, Thomas D. Bird and Sidney M. Gospe Jr.

    Article first published online : 20 SEP 2013, DOI: 10.1002/mus.23976

  13. You have free access to this content
    Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita

    Human Mutation

    Volume 14, Issue 5, November 1999, Page: 447, Raffaella Brugnoni, Stefania Galantini, Paolo Confalonieri, Maria Rosa Balestrini, Ferdinando Cornelio and Renato Mantegazza

    Article first published online : 22 OCT 1999, DOI: 10.1002/(SICI)1098-1004(199911)14:5<447::AID-HUMU13>3.0.CO;2-Z

  14. 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

    Human Mutation

    Volume 11, Issue 4, 1998, Page: 331, F Sangiuolo, A Botta, A Mesoraca, S Servidei, L Merlini, G Fratta, G Novelli and B Dallapiccola

    Article first published online : 22 NOV 1999, DOI: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU13>3.0.CO;2-0

  15. You have full text access to this OnlineOpen article
    Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita

    The Journal of Physiology

    Volume 590, Issue 15, August 2012, Pages: 3449–3464, Sebastian Weinberger, Daniel Wojciechowski, Damien Sternberg, Frank Lehmann-Horn, Karin Jurkat-Rott, Toni Becher, Birgit Begemann, Christoph Fahlke and Martin Fischer

    Article first published online : 5 JUL 2012, DOI: 10.1113/jphysiol.2012.232785

  16. Recessive CLCN1 mutation presenting as thomsen disease

    Muscle & Nerve

    Volume 38, Issue 5, November 2008, Pages: 1515–1517, Judy Thomas, Jack Tarleton and Steven K. Baker

    Article first published online : 24 SEP 2008, DOI: 10.1002/mus.21121

  17. Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita

    Acta Neurologica Scandinavica

    Volume 113, Issue 5, May 2006, Pages: 342–346, H.-C. Kuo, K.-M. Hsiao, L.-I. Chang, T.-H. You, T.-H. Yeh and C.-C. Huang

    Article first published online : 31 MAR 2006, DOI: 10.1111/j.1600-0404.2006.00589.x

  18. Decrement of compound muscle action potential is related to mutation type in myotonia congenita

    Muscle & Nerve

    Volume 27, Issue 4, April 2003, Pages: 449–455, Eskild Colding-Jørgensen, Morten DunØ, Marianne Schwartz and John Vissing

    Article first published online : 6 FEB 2003, DOI: 10.1002/mus.10347

  19. You have free access to this content
    Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression

    Human Mutation

    Volume 24, Issue 2, August 2004, Page: 185, Bronwyn J. Simpson, Tamara A. Height, Grigori Y. Rychkov, Kristen J. Nowak, Nigel G. Laing, Bernard P. Hughes and Allan H. Bretag

    Article first published online : 30 JUN 2004, DOI: 10.1002/humu.9260

  20. Homozygosity for dominant mutations increases severity of muscle channelopathies

    Muscle & Nerve

    Volume 41, Issue 4, April 2010, Pages: 470–477, Marianne Arzel-hézode, Damien Sternberg, Nacira Tabti, Savine Vicart, Cyril Goizet, Bruno Eymard, Bertrand Fontaine and Emmanuel Fournier

    Article first published online : 30 OCT 2009, DOI: 10.1002/mus.21520