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Summary Literature (0)
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 Disease Ontology (on Monarch Initiative):
MONDO:0018947 - centronuclear myopathy


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)