centronuclear myopathy

GPTKB entity

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