myofibrillar myopathy 3

Summary
Synonym
  • LGMD 1A
  • autosomal dominant limb-girdle muscular dystrophy type 1A
  • myotilinopathy
  • spheroid body myopathy
Definition
A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31.
Super Class
autosomal dominant disease myofibrillar myopathy
External Links
Related Genes
Displaying entries 41 - 47 of 47 in total
Gene ID Gene Symbol Description Source
79147 FKRP fukutin related protein
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