Article

Pathogenic <i>PTCD1</i> variants cause mitochondrial protein aggregation and cardiomyopathy

2026-06-10

Abstract excerpt

Disorders of mitochondrial oxidative phosphorylation affecting multiple respiratory chain complexes are among the most common causes of mitochondrial disease in humans. However, impaired energy metabolism alone does not fully account for tissue-specific vulnerability and disease progression, suggesting that additional molecular mechanisms contribute to disease pathology. We previously identified PTCD1 variants in...

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Literature Corpus work: febddce0-17c9-5e99-aa2a-32b12464bb06
DOI: 10.64898/2026.06.06.730566

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