Article

TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning

2023-03-29

Abstract excerpt

Patients with pathogenic variants in the TANGO2 gene suffer from severe and recurrent rhabdomyolysis (RM) episodes precipitated by fasting. Since starvation promotes autophagy induction, we wondered whether TANGO2-related muscle symptoms result from autophagy insufficiency to meet cellular demands in stress conditions. Autophagy functioning was analyzed in vitro , in primary skeletal muscle cells from TANGO2 pati...

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Literature Corpus work: a2cf3ad1-e90c-59cf-ae21-73c499f3c1e6
DOI: 10.1101/2023.03.29.534583

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