autosomal recessive limb-girdle muscular dystrophy type 2A

Summary
Synonym
  • LGMD2A
  • Leyden-Moebius muscular dystrophy
  • limb-girdle muscular dystrophy due to calpain deficiency
  • muscular dystrophy, limb-girdle, type 2A
  • pelvofemoral muscular dystrophy
  • primary calpainopathy
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15.
Super Class
autosomal recessive limb-girdle muscular dystrophy
External Links
Disease Ontology
DOID:0110275
Mondo Disease Ontology
ORDO
OMIM
GARD
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