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 41 - 50 of 66 in total
Gene ID Gene Symbol Description Source
8871 SYNJ2 synaptojanin 2
8972 MGAM maltase-glucoamylase
9104 RGN regucalcin
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10020 GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
10329 RXYLT1 ribitol xylosyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
22933 SIRT2 sirtuin 2
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