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 1 - 10 of 66 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

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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