autosomal recessive limb-girdle muscular dystrophy type 2B

Summary
Synonym
  • LGMD2B
  • LGMD3
  • limb-girdle muscular dystrophy due to dysferlin deficiency
  • limb-girdle muscular dystrophy type 3
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.
Super Class
autosomal recessive limb-girdle muscular dystrophy
External Links
Disease Ontology
DOID:0110276
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 66 in total
Gene ID Gene Symbol Description Source
1119 CHKA choline kinase alpha
1120 CHKB choline kinase beta
1497 CTNS cystinosin, lysosomal cystine transporter
1605 DAG1 dystroglycan 1
1634 DCN decorin
1636 ACE angiotensin I converting enzyme
1800 DPEP1 dipeptidase 1
2023 ENO1 enolase 1
2218 FKTN fukutin
2548 GAA alpha glucosidase
Displaying 1 entry
Gene ID Gene Symbol Description Source
26903 Dysf dysferlin

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024