autosomal recessive limb-girdle muscular dystrophy type 2F

Summary
Synonym
  • LGMD2F
  • delta-sarcoglycanopathy
  • limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD).
Super Class
autosomal recessive limb-girdle muscular dystrophy
Disease Ontology
DOID:0110280
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6444 SGCD sarcoglycan delta
Displaying 1 entry
Gene ID Gene Symbol Description Source
24052 Sgcd sarcoglycan, delta (dystrophin-associated glycoprotein)

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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