autosomal recessive limb-girdle muscular dystrophy type 2C

Summary
Synonym
  • DMDA1
  • LGMD2C
  • Maghrebian myopathy
  • SCARMD
  • autosomal recessive Duchenne-like muscular dystrophy type 1
  • deficiency of sarcoglycan gamma
  • gamma-sarcoglycanopathy
  • limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
  • muscular dystrophy, limb-girdle, type 2C
  • severe childhood autosomal recessive muscular dystrophy North African type
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12.
Super Class
autosomal recessive limb-girdle muscular dystrophy
External Links
Disease Ontology
DOID:0110277
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 61 - 66 of 66 in total
Gene ID Gene Symbol Description Source
84197 POMK protein O-mannose kinase
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

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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