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MIRAGE
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 1 entry
Gene ID Gene Symbol Description Source
13430 Dnm2 dynamin 2
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P39054 Dynamin-2
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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: April 7, 2025