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Article

A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy

24 May 2023

Abstract excerpt

Mitochondrial diseases are a heterogeneous group of monogenic disorders that result from impaired oxidative phosphorylation (OXPHOS). As neuromuscular tissues are highly energy-dependent, mitochondrial diseases often affect skeletal muscle. Although genetic and bioenergetic causes of OXPHOS impairment in human mitochondrial myopathies are well established, there is a limited understanding of metabolic drivers of...

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PMID: 37222423
DOI: 10.15252/emmm.202216951

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