Term Name: | centronuclear myopathy |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:14717] ( DOID:14717 ) |