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
External Links
Disease Ontology
DOID:11724
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 61 - 65 of 65 in total
Gene ID Gene Symbol Description Source
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
120071 LARGE2 LARGE xylosyl- and glucuronyltransferase 2
124872 B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)
148789 B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
729920 CRPPA CDP-L-ribitol pyrophosphorylase A
Displaying all 3 entries
Gene ID Gene Symbol Description Source
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)

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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: August 19, 2024