Statements (39)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb: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
|
| 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:DNM
gptkb:dynamin_family_proteins gptkb:BIN1 gptkb:Dynamin gptkb:dynamins gptkb:BAR_domain gptkb:DNM2 gptkb:Dynamin_2 |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
centronuclear myopathy
|