muscular dystrophy-dystroglycanopathy

Summary
Synonym
  • MDDG
Definition
A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan.
Super Class
congenital muscular dystrophy
Disease Ontology
DOID:0112374
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
29925 GMPPB GDP-mannose pyrophosphorylase B
Displaying all 3 entries
Gene ID Gene Symbol Description Source
31024 tw twisted
36773 Dg Dystroglycan
39297 rt rotated abdomen

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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