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 51 - 60 of 65 in total
Gene ID Gene Symbol Description Source
27306 HPGDS hematopoietic prostaglandin D synthase
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
51763 INPP5K inositol polyphosphate-5-phosphatase K
54344 DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
55750 AGK acylglycerol kinase
56983 POGLUT1 protein O-glucosyltransferase 1
79147 FKRP fukutin related protein
84197 POMK protein O-mannose 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