| 单词 | central core myopathy |
| 释义 | central core myopathycentral core myopathyCentral 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 |
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