Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Vicky Zhou + 446 word(s) 446 2020-12-15 07:47:48

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
No, upload directly Yes
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Zhou, V. CLCN1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5144 (accessed on 22 September 2026).
Zhou V. CLCN1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5144. Accessed September 22, 2026.
Zhou, Vicky. "CLCN1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5144 (accessed September 22, 2026).
Zhou, V. (2020, December 24). CLCN1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5144
Zhou, Vicky. "CLCN1 Gene." Encyclopedia. Web. 24 December, 2020.
CLCN1 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/clcn1

chloride voltage-gated channel 1

genes

References

  1. Colding-Jørgensen E. Phenotypic variability in myotonia congenita. MuscleNerve. 2005 Jul;32(1):19-34. Review.
  2. Dunø M, Colding-Jørgensen E, Grunnet M, Jespersen T, Vissing J, Schwartz M.Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. Eur J Hum Genet. 2004 Sep;12(9):738-43.
  3. Dunø M, Colding-Jørgensen E. Myotonia Congenita. 2005 Aug 3 [updated 2015 Aug 6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, AmemiyaA, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1355/
  4. Grunnet M, Jespersen T, Colding-Jørgensen E, Schwartz M, Klaerke DA, VissingJ, Olesen SP, Dunø M. Characterization of two new dominant ClC-1 channelmutations associated with myotonia. Muscle Nerve. 2003 Dec;28(6):722-32.
  5. Imbrici P, Altamura C, Pessia M, Mantegazza R, Desaphy JF, Camerino DC. ClC-1 chloride channels: state-of-the-art research and future challenges. Front CellNeurosci. 2015 Apr 27;9:156. doi: 10.3389/fncel.2015.00156.Review.
  6. Jentsch TJ, Stein V, Weinreich F, Zdebik AA. Molecular structure andphysiological function of chloride channels. Physiol Rev. 2002 Apr;82(2):503-68. Review. Erratum in: Physiol Rev. 2003 Apr;83(2):following table of contents.
  7. Pusch M. Myotonia caused by mutations in the muscle chloride channel geneCLCN1. Hum Mutat. 2002 Apr;19(4):423-34. Review.
  8. Zhang J, Bendahhou S, Sanguinetti MC, Ptácek LJ. Functional consequences ofchloride channel gene (CLCN1) mutations causing myotonia congenita. Neurology.2000 Feb 22;54(4):937-42.
  9. Zhang J, George AL Jr, Griggs RC, Fouad GT, Roberts J, Kwieciński H, Connolly AM, Ptácek LJ. Mutations in the human skeletal muscle chloride channel gene(CLCN1) associated with dominant and recessive myotonia congenita. Neurology.1996 Oct;47(4):993-8.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vicky Zhou
View Times: 863
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
Table of Contents
    Notice
    You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
    OK
    Confirm
    Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
    Yes
    No
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    There is no comment~
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    ${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
    Submit
    Cancel
    Confirm
    Are you sure to Delete?
    Yes No
    Academic Video Service
    Feedback