distal myopathy

Summary
Synonym
  • distal muscular dystrophy
Definition
A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.
Super Class
muscular dystrophy
External Links
Disease Ontology
DOID:11720
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
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
Displaying 1 entry
Gene ID Gene Symbol Description Source
26903 Dysf dysferlin

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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