myotonic disease

Summary
Definition
A muscular dystrophy that is characterized by progressive muscle wasting and weakness.
Super Class
muscular dystrophy
External Links
Disease Ontology
DOID:450
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 14 in total
Gene ID Gene Symbol Description Source
250 ALPP alkaline phosphatase, placental
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
3339 HSPG2 heparan sulfate proteoglycan 2
3423 IDS iduronate 2-sulfatase
4360 MRC1 mannose receptor C-type 1
4534 MTM1 myotubularin 1
5226 PGD phosphogluconate dehydrogenase
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5621 PRNP prion protein (Kanno blood group)
7368 UGT8 UDP glycosyltransferase 8

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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