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DOID:14717 - centronuclear myopathy
Disease Ontology 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.
Synonyms: myotubular myopathy
Xenbase Genes
:
dnm2,
bin1,
map3k20,
myf6,
mtm1,
mtmr14,
ccdc78
| MONDO:0018947 - centronuclear myopathy |
| MIM:160150 - MYOPATHY, CENTRONUCLEAR, 1; CNM1 |
| MIM:255200 - MYOPATHY, CENTRONUCLEAR, 2; CNM2 |
| MIM:310400 - MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX |
| MIM:614807 - MYOPATHY, CENTRONUCLEAR, 4; CNM4 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
congenital structural myopathy (is_a),
myopathy (is_a)