Article

Glycerolipid defects in skeletal muscle contribute to rhabdomyolysis in Tango2 deficiency

2022-11-12

Abstract excerpt

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

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Literature Corpus work: d31499a5-e209-5498-aea7-6ff06947dcdd
DOI: 10.1101/2022.11.12.516274

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