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 41 - 50 of 66 in total
Gene ID Gene Symbol Description Source
8871 SYNJ2 synaptojanin 2
8972 MGAM maltase-glucoamylase
9104 RGN regucalcin
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
10329 RXYLT1 ribitol xylosyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
22933 SIRT2 sirtuin 2

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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