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 + 746 word(s) 746 2020-12-15 07:25:43

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. Glycogen Storage Disease Type VII. Encyclopedia. Available online: https://encyclopedia.pub/entry/4040 (accessed on 27 September 2026).
Xu C. Glycogen Storage Disease Type VII. Encyclopedia. Available at: https://encyclopedia.pub/entry/4040. Accessed September 27, 2026.
Xu, Camila. "Glycogen Storage Disease Type VII" Encyclopedia, https://encyclopedia.pub/entry/4040 (accessed September 27, 2026).
Xu, C. (2020, December 23). Glycogen Storage Disease Type VII. In Encyclopedia. https://encyclopedia.pub/entry/4040
Xu, Camila. "Glycogen Storage Disease Type VII." Encyclopedia. Web. 23 December, 2020.
Glycogen Storage Disease Type VII
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii

Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.

genetic conditions

References

  1. Brüser A, Kirchberger J, Schöneberg T. Altered allosteric regulation of muscle6-phosphofructokinase causes Tarui disease. Biochem Biophys Res Commun. 2012 Oct 12;427(1):133-7. doi: 10.1016/j.bbrc.2012.09.024.Biochem Biophys Res Commun. 2013 Feb 8;431(2):367.
  2. Di Mauro S. Muscle glycogenoses: an overview. Acta Myol. 2007 Jul;26(1):35-41.Review.
  3. Musumeci O, Bruno C, Mongini T, Rodolico C, Aguennouz M, Barca E, Amati A,Cassandrini D, Serlenga L, Vita G, Toscano A. Clinical features and new molecularfindings in muscle phosphofructokinase deficiency (GSD type VII). NeuromusculDisord. 2012 Apr;22(4):325-30. doi: 10.1016/j.nmd.2011.10.022.
  4. Toscano A, Musumeci O. Tarui disease and distal glycogenoses: clinical andgenetic update. Acta Myol. 2007 Oct;26(2):105-7. Review.
  5. Vives-Corrons JL, Koralkova P, Grau JM, Mañú Pereira Mdel M, Van Wijk R. Firstdescription of phosphofructokinase deficiency in spain: identification of a novelhomozygous missense mutation in the PFKM gene. Front Physiol. 2013 Dec 30;4:393. doi: 10.3389/fphys.2013.00393.
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: 890
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