Summary Literature (0)

DOID:14717 - centronuclear myopathy

Disease Ontology Definition:A 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, myf6, mtm1, mtmr14, ccdc78

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0018947 - centronuclear myopathy

OMIM:

OMIM:160150 - MYOPATHY, CENTRONUCLEAR, 1; CNM1

OMIM:255200 - MYOPATHY, CENTRONUCLEAR, 2; CNM2

OMIM:310400 - MYOPATHY, CENTRONUCLEAR, X-LINKED; CNMX

OMIM:614807 - MYOPATHY, CENTRONUCLEAR, 4; CNM4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee