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myopathy, tubular aggregate, 1

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 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. They may occur in a variety of circumstances, including inherited myopathies, alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness.
Mondo Term and Equivalent IDs
MONDO:0024531:  myopathy, tubular aggregate, 1
UMLS:C4011726: