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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

In 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

In Mondo Disease Ontology:
MONDO:0018947 - centronuclear myopathy

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : dnm2, bin1, myf6, mtm1, mtmr14, ccdc78

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): myopathy (is_a)