autosomal recessive limb-girdle muscular dystrophy type 2Y

Summary
Synonym
  • LGMD2Y
  • autosomal recessive muscular dystrophy due to LAP1B deficiency
  • autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
  • muscular dystrophy with progressive weakness, distal contractures and rigid spine
  • muscular dystrophy, limb-girdle, type 2Y
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.
Super Class
autosomal recessive limb-girdle muscular dystrophy
External Links
Related Genes
Displaying entries 61 - 65 of 65 in total
Gene ID Gene Symbol Description Source
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