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 all 5 entries
Gene ID Gene Symbol Description Source
6445 SGCG sarcoglycan gamma
26509 MYOF myoferlin
79147 FKRP fukutin related protein
90342 FER1L5 fer-1 like family member 5
654463 FER1L6 fer-1 like family member 6
Displaying all 5 entries
Gene ID Gene Symbol Description Source
14782 Gsr glutathione reductase
24053 Sgcg sarcoglycan, gamma (dystrophin-associated glycoprotein)
26903 Dysf dysferlin
226101 Myof myoferlin
243853 Fkrp fukutin related protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
308390 Fkrp fukutin related protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
37375 CG15651 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
571426 fkrp fukutin related protein
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100145309 fkrp fukutin related protein Xenopus tropicalis (tropical clawed frog)
108698503 fkrp.L fukutin related protein L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
856014 GLR1 glutathione-disulfide reductase GLR1

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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: December 9, 2024