Description
central core myopathy: An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)
Data source
| FinnGen phenocode |
G6_CONMYOP |
| Hospital Discharge registry |
ICD-10: G712, ICD-9: 3590A |
| Cause of Death registry |
ICD-10: G712, ICD-9: 3590A |
| Level in the ICD-hierarchy |
3 |
| First defined in version |
DF2 |
Ontology