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 1 - 10 of 65 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
142 PARP1 poly(ADP-ribose) polymerase 1
176 ACAN aggrecan
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
239 ALOX12 arachidonate 12-lipoxygenase, 12S type
250 ALPP alkaline phosphatase, placental
353 APRT adenine phosphoribosyltransferase
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
960 CD44 CD44 molecule (IN blood group)
1119 CHKA choline kinase alpha
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