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October 01, 1996; 47 (4) ARTICLES

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

J. Zhang, A. L. George, R. C. Griggs, G. T. Fouad, J. Roberts, H. Kwiecinski, A. M. Connolly, L. J. Ptacek
First published October 1, 1996, DOI: https://doi.org/10.1212/WNL.47.4.993
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Article Information

vol. 47 no. 4 993-998
DOI: 
https://doi.org/10.1212/WNL.47.4.993
PubMed: 
8857733
Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Print ISSN: 
0028-3878
Online ISSN: 
1526-632X
History: 
  • First Published October 1, 1996.
Copyright & Usage: 
Copyright 1996 by Advanstar Communications Inc.

Author Disclosures

    1. J. Zhang, MS,
    2. A. L. George Jr., MD,
    3. R. C. Griggs, MD,
    4. G. T. Fouad, BS,
    5. J. Roberts, MD,
    6. H. Kwiecinski, MD, PhD,
    7. A. M. Connolly, MD and
    8. L. J. Ptacek, MD
  1. J. Zhang, MS,
  2. A. L. George Jr., MD,
  3. R. C. Griggs, MD,
  4. G. T. Fouad, BS,
  5. J. Roberts, MD,
  6. H. Kwiecinski, MD, PhD,
  7. A. M. Connolly, MD and
  8. L. J. Ptacek, MD
  1. From the Department of Neurology (J. Zhang, G. Fouad, and Drs. Roberts and Ptacek), the Department of Human Genetics (Dr. Ptacek), the Program in Human Molecular Biology and Genetics (Dr. Ptacek), and the Program in Neuroscience (J. Zhang, and Dr. Ptacek), University of Utah, Salt Lake City, UT; the Department of Medicine and Department of Pharmacology (Dr. George), Vanderbilt University School of Medicine, Nashville, TN; the Department of Neurology (Dr. Griggs), University of Rochester School of Medicine and Dentistry, Rochester, NY; the Department of Neurology (Dr. Kwiecinski), Medical Academy of Warsaw, Warsaw, Poland; and the Department of Neurology (Dr. Connolly), Washington University School of Medicine, St. Louis, MO.
  2. Supported by the Utah Technology Access Center (NIH grant no. 8 R01 HG00367 from the Center for Human Genome Research); by NIH grant HD00940 (to LP), by Public Health Service research grants no. M01-RR00064 (University of Utah) and M01-RR0004 (University of Rochester) from the National Center for Research Resources; by the H.A. Benning Endowment; by a grant from the Muscular Dystrophy Association (to L.J.P. and A.L.G.), and by the Charles E. Culpeper Foundation. Dr. George is a Lucille P. Markey Scholar; Dr. Ptacek is a Charles E. Culpeper Foundation Scholar.
  3. Received November 29, 1995. Accepted in final form February 7, 1996.
  4. Address correspondence and reprint requests to Dr Ptacek, Building 533, Room 2260, Departments of Neurology and Human Genetics, University of Utah, Salt Lake City, UT 84112.
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