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 11 - 20 of 65 in total
Gene ID Gene Symbol Description Source
1120 CHKB choline kinase beta
1497 CTNS cystinosin, lysosomal cystine transporter
1605 DAG1 dystroglycan 1
1634 DCN decorin
1636 ACE angiotensin I converting enzyme
1800 DPEP1 dipeptidase 1
2023 ENO1 enolase 1
2218 FKTN fukutin
2548 GAA alpha glucosidase
2710 GK glycerol kinase

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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