limb-girdle muscular dystrophy

Summary
Synonym
  • Erb's muscular dystrophy
  • Leyden-Mbius muscular dystrophy
  • limb girdle muscular dystrophy
Definition
A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.
Super Class
muscular dystrophy
Disease Ontology
DOID:11724
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
79147 FKRP fukutin related protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
24053 Sgcg sarcoglycan, gamma (dystrophin-associated glycoprotein)
Displaying 1 entry
Gene ID Gene Symbol Description Source
856014 GLR1 glutathione-disulfide reductase GLR1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9H9S5 Ribitol 5-phosphate transferase FKRP
Displaying 1 entry
UniProt ID Protein Name Source
P82348 Gamma-sarcoglycan
Displaying 1 entry
UniProt ID Protein Name Source
P41921 Glutathione reductase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: April 7, 2025