Article

Genetic analysis and multimodal imaging identify novel mtDNA 12148T>C leading to multisystem dysfunction with tissue-specific heteroplasmy

2023-11-05

Abstract excerpt

<h4>ABSTRACT</h4> Patients with mitochondrial disorders present with clinically diverse symptoms, largely driven by heterogeneous mutations in mitochondrial-encoded and nuclear-encoded mitochondrial genes. These mutations ultimately lead to complex biochemical disorders with a myriad of clinical manifestations, often accumulating during childhood on into adulthood, contributing to life-altering and sometimes fatal...

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Literature Corpus work: 2a37b2ca-0b70-5d46-867f-6b2e34f4f41e
DOI: 10.1101/2023.11.03.23297854

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Genetic analysis and multimodal imaging identify novel mtDNA 12148T>C leading to multisystem dysfunction with tissue-specific heteroplasmyDOI 10.1101/2023.11.03.23297854Read

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