OBO ID: DOID:14717
Term Name: centronuclear myopathy Search Ontology:
Synonyms:
  • myotubular myopathy
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. (2)
References:
  • GARD:101
  • ICD10CM:G71.22
  • MESH:D020914
  • NCI:C84648
  • ORDO:595
  • ORDO:596
  • ORDO:69186
  • ORDO:69189
  • SNOMEDCT_US_2022_03_01:193223007
  • UMLS_CUI:C0175709
Ontology: Human Disease   (DOID:14717)
OTHER centronuclear myopathy PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (6)