centronuclear myopathy

Summary
Synonym
  • myotubular myopathy
Definition
A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
Super Class
congenital structural myopathy
External Links
Disease Ontology
DOID:14717
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 26 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
952 CD38 CD38 molecule
1103 CHAT choline O-acetyltransferase
1120 CHKB choline kinase beta
1588 CYP19A1 cytochrome P450 family 19 subfamily A member 1
2218 FKTN fukutin
2673 GFPT1 glutamine--fructose-6-phosphate transaminase 1
3423 IDS iduronate 2-sulfatase
4534 MTM1 myotubularin 1
5016 OVGP1 oviductal glycoprotein 1

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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