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)
Other names Syndrome, Shy-Magee; Shy Magee Syndrome; Myopathies, Central Core; Central Core Myopathies; Central Core Diseases; Central Core Disease of Muscle; Central Core Disease; Shy-Magee Syndrome; Central Core Myopathy
