Svensk definition
En ärftlig, medfödd muskelsjukdom som kännetecknas av svaghet och hypotoni i barndomen och försenad motorisk utveckling. Muskelbiopsier visar förtätning av myofibriller i de centrala delarna av varje muskelfiber.
Myopathy, Central Core
Central core myopati
Engelsk definition
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)
Svenska synonymer
Shy-Magees syndrom — Central core disease
Engelska synonymer
Central Core Myopathies — Myopathies, Central Core — Shy-Magee Syndrome — Shy Magee Syndrome — Syndrome, Shy-Magee — Central Core Myopathy — Central Core Disease — Central Core Diseases — Central Core Disease of Muscle