Article

Pleuroparenchymal fibroelastosis in monogenic <i>DGUOK</i> -associated mitochondriopathy

2026-04-09

Abstract excerpt

<h4>Background</h4> Pleuroparenchymal fibroelastosis (PPFE) is a rare, fibrotic lung disease with poor prognosis, usually affecting adults which most commonly occurs idiopathically. Biallelic pathogenic variants in DGUOK cause mitochondrial DNA (mtDNA) depletion syndrome, predominantly affecting infants with severe hepatic and neurological symptoms. Detailed description of pulmonary manifestations with late-onse...

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Literature Corpus work: 51c11565-fc87-5a11-b396-6147385c54a9
DOI: 10.64898/2026.04.08.26349275

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