Statements (32)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
muscular dystrophy |
gptkbp:affects |
gptkb:skeletal_muscle
|
gptkbp:causedBy |
mutation in RYR1 gene
mutation in BIN1 gene mutation in DNM2 gene mutation in MTM1 gene |
gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
gptkbp:hasOrphanetID |
ORPHA:569
|
https://www.w3.org/2000/01/rdf-schema#label |
centronuclear myopathy
|
gptkbp:ICD-10_code |
G71.2
|
gptkbp:inheritance |
autosomal dominant
X-linked recessive autosomal recessive |
gptkbp:namedAfter |
central location of nuclei in muscle fibers
|
gptkbp:OMIM |
255200
|
gptkbp:onset |
childhood
adult congenital |
gptkbp:prevalence |
rare
|
gptkbp:symptom |
hypotonia
muscle weakness ptosis delayed motor milestones ophthalmoplegia respiratory difficulties |
gptkbp:treatment |
supportive care
physical therapy respiratory support |
gptkbp:bfsParent |
gptkb:Dynamin
|
gptkbp:bfsLayer |
6
|