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There are 6718 results for: content related to: A patient with mutation in the SCN4A p.M1592v presenting with fixed weakness, rhabdomyolysis, and episodic worsening of weakness

  1. 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

  2. Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?

    Muscle & Nerve

    Volume 50, Issue 3, September 2014, Pages: 327–332, Bas C. Stunnenberg, Jaap Deinum, Thera P. Links, Arthur A. Wilde, Hessel Franssen and Gea Drost

    Article first published online : 12 AUG 2014, DOI: 10.1002/mus.24225

  3. Diagnostic evaluation of rhabdomyolysis

    Muscle & Nerve

    Volume 51, Issue 6, June 2015, Pages: 793–810, Jessica R. Nance and Andrew L. Mammen

    Article first published online : 14 MAR 2015, DOI: 10.1002/mus.24606

  4. Paramyotonia congenita: From clinical diagnosis to in silico protein modeling analysis

    Pediatrics International

    Volume 54, Issue 5, October 2012, Pages: 602–612, Dian K. Nurputra, Taku Nakagawa, Yasuhiro Takeshima, Indra S.K. Harahap, Satoru Morikawa, Toshiyuki Sakaeda, Poh San Lai, Masafumi Matsuo, Yutaka Takaoka and Hisahide Nishio

    Article first published online : 10 JUL 2012, DOI: 10.1111/j.1442-200X.2012.03646.x

  5. Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A

    Neuropathology

    Volume 29, Issue 5, October 2009, Pages: 579–584, Xinghua Luan, Bin Chen, Yang Liu, Riliang Zheng, Wei Zhang and Yun Yuan

    Article first published online : 11 DEC 2008, DOI: 10.1111/j.1440-1789.2008.00985.x

  6. Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 3, 1 February 2008, Pages: 380–383, Sébastien Gay, Delphine Dupuis, Laurence Faivre, Alice Masurel-Paulet, Marc Labenne, Marina Colombani, Pierre Soichot, Frédéric Huet, Bernard Hainque, Damien Sternberg, Bertrand Fontaine, Jean-Bernard Gouyon and Christel Thauvin-Robinet

    Article first published online : 17 JAN 2008, DOI: 10.1002/ajmg.a.32141

  7. Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation

    Muscle & Nerve

    Torberg Torbergsen, Karin Jurkat-Rott, Erik V. StÅLberg, Sissel Løseth, Anne Hødneø and Frank Lehmann-Horn

    Article first published online : 30 JUN 2015, DOI: 10.1002/mus.24672

  8. Molecular Genetics of Skeletal Muscle Channelopathies

    Standard Article

    eLS

    Siobhan CM Durran, Emma Matthews and Michael Hanna

    Published Online : 19 SEP 2013, DOI: 10.1002/9780470015902.a0024912

  9. 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

  10. Nav1.4 slow-inactivation: Is it a player in the warm-up phenomenon of myotonic disorders?

    Muscle & Nerve

    Volume 47, Issue 4, April 2013, Pages: 483–487, Christoph Lossin

    Article first published online : 4 FEB 2013, DOI: 10.1002/mus.23713

  11. Normokalemic periodic paralysis is not a distinct disease

    Muscle & Nerve

    Volume 46, Issue 6, December 2012, Pages: 908–913, Young-Wha Song, Sung-Jo Kim, Tae-Hwe Heo, Man-Ho Kim and June-Bum Kim

    Article first published online : 24 AUG 2012, DOI: 10.1002/mus.23441

  12. A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia

    Human Mutation

    Volume 32, Issue 7, July 2011, Pages: 773–782, Tomoya Kubota, Xavier Roca, Takashi Kimura, Yosuke Kokunai, Ichizo Nishino, Saburo Sakoda, Adrian R. Krainer and Masanori P. Takahashi

    Article first published online : 28 APR 2011, DOI: 10.1002/humu.21501

  13. Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree

    American Journal of Medical Genetics

    Volume 76, Issue 1, 26 February 1998, Pages: 21–27, Roxana Moslehi, Sylvie Langlois, Irene Yam and J.M. Friedman

    Article first published online : 7 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19980226)76:1<21::AID-AJMG3>3.0.CO;2-S

  14. Normokalemic periodic paralysis revisited: Does it exist?

    Annals of Neurology

    Volume 52, Issue 2, August 2002, Pages: 251–252, Patrick F. Chinnery, Timothy J. Walls, Michael G. Hanna, David Bates and Peter R. W. Fawcett

    Article first published online : 23 JUN 2002, DOI: 10.1002/ana.10257

  15. Becker myotonia—a recently identified mutation in iberian descendants with apparent acetazolamide-responsive phenotype

    Muscle & Nerve

    Volume 51, Issue 6, June 2015, Pages: 933–934, Sandra D. Moreira, Rui Barreto and José Mário Roriz

    Article first published online : 16 DEC 2014, DOI: 10.1002/mus.24534

  16. 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

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    A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation

    The Journal of Physiology

    Volume 565, Issue 2, June 2005, Pages: 371–380, Fen-fen Wu, Erynn Gordon, Eric P. Hoffman and Stephen C. Cannon

    Article first published online : 13 JUN 2005, DOI: 10.1113/jphysiol.2005.082909

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    Voltage-gated sodium channel polymorphisms play a pivotal role in the development of oxaliplatin-induced peripheral neurotoxicity: Results from a prospective multicenter study

    Cancer

    Volume 119, Issue 19, 1 October 2013, Pages: 3570–3577, Andreas A. Argyriou, Guido Cavaletti, Anna Antonacopoulou, Armando A. Genazzani, Chiara Briani, Jordi Bruna, Salvatore Terrazzino, Roser Velasco, Paola Alberti, Marta Campagnolo, Sara Lonardi, Diego Cortinovis, Marina Cazzaniga, Cristina Santos, Aikaterini Psaromyalou, Aikaterini Angelopoulou and Haralabos P. Kalofonos

    Article first published online : 2 JUL 2013, DOI: 10.1002/cncr.28234

  19. A novel muscle sodium channel mutation causes painful congenital myotonia

    Annals of Neurology

    Volume 42, Issue 5, November 1997, Pages: 811–814, Dr. Jeffrey Rosenfeld, Karen Sloan-Brown and Alfred L. George Jr

    Article first published online : 8 OCT 2004, DOI: 10.1002/ana.410420520

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    A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro

    The Journal of Physiology

    Volume 529, Issue 3, December 2000, Pages: 533–540, Alexi K. Alekov, Md. Masmudur Rahman, Nenad Mitrovic, Frank LehmannHorn and Holger Lerche

    Article first published online : 12 AUG 2004, DOI: 10.1111/j.1469-7793.2000.00533.x