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myopathy, tubular aggregate, 2

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene.
Uniprot Description A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. TAM2 patients have myopathy and pupillary abnormalities.
Mondo Term and Equivalent IDs
MONDO:0014383:  myopathy, tubular aggregate, 2
UMLS:C4014557: