释义 |
central core myopathy central core myopathy Central core disease of muscle, Shy-Magee disease An AD myopathy of neonatal onset, causing hypotonia in infancy–'floppy baby' syndrome Clinical Slowly progressive muscle weakness, post-exercise cramping, and sparing of the cranial muscles Genetics The defect is located on chromosome 19 and involves the ryanodine receptor-1 |