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Dystrophinopathy-associated dysfunction of Krebs cycle metabolism

19 Nov 2018

Abstract excerpt

Duchenne muscular dystrophy is a deadly muscle-wasting disorder caused by loss of dystrophin protein. Studies suggest that metabolic alterations are important to disease pathogenesis. Because muscle accounts for ~40% of body mass, we hypothesized that dystrophy-mediated metabolic changes would be measurable in biofluids and that a metabolomic analysis of urine would provide insight into the metabolic status of...

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PMID: 30476171
DOI: 10.1093/hmg/ddy404

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