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polyglucosan body myopathy 1 with or without immunodeficiency

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A disease characterized by polyglucosan storage myopathy associated with early-onset progressive muscle weakness and progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. Some patients present with severe immunodeficiency, invasive bacterial infections and chronic autoinflammation.
Mondo Term and Equivalent IDs
MONDO:0014389:  polyglucosan body myopathy 1 with or without immunodeficiency
UMLS:C4014605: