A hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.
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leukoencephalopathy, megalencephalic
MONDO:0000137
epilepsy, familial adult myoclonic
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encephalopathy, acute, infection-induced
MONDO:0000166
GLUT1 deficiency syndrome
MONDO:0000188
paraganglioma
MONDO:0000448
familial hemiplegic migraine
MONDO:0000700