ZFIN Human Disease: centronuclear myopathy

OBO ID: DOID:14717

Term Name:	centronuclear myopathy		Search Ontology:
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 centronuclear myopathy PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS

Fish	Conditions	Citations
mtm1^zf711/zf711 (AB)	standard conditions	Sabha et al., 2016
AB + MO3-mtm1	standard conditions	Sabha et al., 2016
WT + MO1-mtm1	standard conditions	Dowling et al., 2009
WT + MO2-mtm1	standard conditions	Dowling et al., 2009
WT + MO3-mtm1	standard conditions	Dowling et al., 2009

PHENOTYPE No data available

CITATIONS (6)