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
Disease Ontology
DOID:14717
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
1785 DNM2 dynamin 2
4534 MTM1 myotubularin 1
9107 MTMR6 myotubularin related protein 6
9108 MTMR7 myotubularin related protein 7
55613 MTMR8 myotubularin related protein 8
Displaying all 2 entries
Gene ID Gene Symbol Description Source
13430 Dnm2 dynamin 2
210376 Mtmr9 myotubularin related protein 9
Displaying 1 entry
Gene ID Gene Symbol Description Source
64672 Pln phospholamban
Displaying 1 entry
Gene ID Gene Symbol Description Source
853870 VPS1 dynamin-like GTPase VPS1

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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: December 9, 2024