central core disease

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central core disease,

an autosomal-dominant form of myopathy characterized by dense, amorphous hyaline changes in the central portion of the myofibrils, which lack organelles. Onset is in infancy and causes delayed motor development, especially in the lower limbs. Also called Shy-Magee syndrome.

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central core myopathy
disease
floppy infant

Myopathies
Shy-Magee syndrome

[8(p1132)] These are Evans myopathy, King-Denborough syndrome, and central core disease.

Malignant Hyperthermia by MacIntyre, Donna L / Physical Therapy

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