centronuclear myopathy

Term ID

DOID:14717

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. (2)

References

GARD:101
ICD10CM:G71.22
MESH:D020914
NCI:C84648
ORDO:595
ORDO:596
ORDO:69186
ORDO:69189
SNOMEDCT_US_2023_03_01:193223007
UMLS_CUI:C0175709

Ontology

Human Disease ( DOID:14717 )

Relationships

is a type of: congenital structural myopathy

congenital structural myopathy Show first 5 Terms
has subtype: autosomal dominant centronuclear myopathy autosomal recessive centronuclear myopathy centronuclear myopathy X-linked

autosomal dominant centronuclear myopathy autosomal recessive centronuclear myopathy centronuclear myopathy X-linked Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models