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 Camila Xu + 586 word(s) 586 2020-12-15 07:27:51

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.
Xu, C. Inclusion Body Myopathy 2. Encyclopedia. Available online: https://encyclopedia.pub/entry/4231 (accessed on 29 September 2026).
Xu C. Inclusion Body Myopathy 2. Encyclopedia. Available at: https://encyclopedia.pub/entry/4231. Accessed September 29, 2026.
Xu, Camila. "Inclusion Body Myopathy 2" Encyclopedia, https://encyclopedia.pub/entry/4231 (accessed September 29, 2026).
Xu, C. (2020, December 23). Inclusion Body Myopathy 2. In Encyclopedia. https://encyclopedia.pub/entry/4231
Xu, Camila. "Inclusion Body Myopathy 2." Encyclopedia. Web. 23 December, 2020.
Inclusion Body Myopathy 2
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/inclusion-body-myopathy-2

Inclusion body myopathy 2 is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time.

genetic conditions

References

  1. Argov Z, Eisenberg I, Grabov-Nardini G, Sadeh M, Wirguin I, Soffer D,Mitrani-Rosenbaum S. Hereditary inclusion body myopathy: the Middle Easterngenetic cluster. Neurology. 2003 May 13;60(9):1519-23.
  2. Carrillo N, Malicdan MC, Huizing M. GNE Myopathy. 2004 Mar 26 [updated 2020Apr 9]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1262/
  3. Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M,Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G,Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z,Mitrani-Rosenbaum S. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. NatGenet. 2001 Sep;29(1):83-7.
  4. Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y,Niikawa N, Kishino T. Nonaka myopathy is caused by mutations in theUDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J Hum Genet. 2002;47(2):77-9.
  5. Malicdan MC, Noguchi S, Nishino I. Perspectives on distal myopathy with rimmedvacuoles or hereditary inclusion body myopathy: contributions from an animalmodel. Lack of sialic acid, a central determinant in sugar chains, causesmyopathy? Acta Myol. 2007 Dec;26(3):171-5. Review.
  6. Malicdan MC, Noguchi S, Nishino I. Recent advances in distal myopathy withrimmed vacuoles (DMRV) or hIBM: treatment perspectives. Curr Opin Neurol. 2008Oct;21(5):596-600. doi: 10.1097/WCO.0b013e32830dd595. Review.
  7. Mastaglia FL, Lamont PJ, Laing NG. Distal myopathies. Curr Opin Neurol. 2005Oct;18(5):504-10. Review.
  8. Nishino I, Malicdan MC, Murayama K, Nonaka I, Hayashi YK, Noguchi S. Molecularpathomechanism of distal myopathy with rimmed vacuoles. Acta Myol. 2005Oct;24(2):80-3. Review.
  9. Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, Nagata T, Chida K, Takahashi T, Takusa Y, Ohi T, Nishimiya J, Sunohara N, Ciafaloni E, Kawai M, AokiM, Nonaka I. Distal myopathy with rimmed vacuoles is allelic to hereditaryinclusion body myopathy. Neurology. 2002 Dec 10;59(11):1689-93.
  10. Nonaka I, Noguchi S, Nishino I. Distal myopathy with rimmed vacuoles andhereditary inclusion body myopathy. Curr Neurol Neurosci Rep. 2005 Feb;5(1):61-5.Review.
  11. Tomimitsu H, Shimizu J, Ishikawa K, Ohkoshi N, Kanazawa I, Mizusawa H. Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.Neurology. 2004 May 11;62(9):1607-10.
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 : Camila Xu
View Times: 707
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 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