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Article

Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2.

Disease models & mechanisms - 1 Sept 2023

Kim Euri S, Casey Jennifer G, Tao Brian S, Mansur Arian, Mathiyalagan Nishanthi, Wallace E Diane, Ehrmann Brandie M, Gupta Vandana A

Abstract excerpt

Rhabdomyolysis is a clinical emergency characterized by severe muscle damage, resulting in the release of intracellular muscle components, which leads to myoglobinuria and, in severe cases, acute kidney failure. Rhabdomyolysis is caused by genetic factors linked to increased disease susceptibility in response to extrinsic triggers. Recessive mutations in TANGO2 result in episodic rhabdomyolysis, metabolic crises,...

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Identifiers

PMID: 37577943
DOI: 10.1242/dmm.050092
PMCID: PMC10499024

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