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Myopathy caused by variation in POMT1

MedGen UID:
988198
Concept ID:
CN305641
Disease or Syndrome
Synonyms: myopathy caused by mutation in POMT1; myopathy caused by variation in POMT1; POMT1 myopathy; POMT1-related myopathy
 
Monarch Initiative: MONDO:0700070

Definition

Any myopathy in which the cause of the disease is a variation in the POMT1 gene. [from MONDO]

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