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MIM:117000 - CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA; CMYP1A
Xenbase Genes: ryr1
Human Disease Resource: MIM
MONDO:0007294 - central core myopathy |
MONDO:0015793 - moderate multiminicore disease with hand involvement |
MONDO:0018948 - multiminicore myopathy |
DOID:3529 - congenital myopathy 1A |