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Article

DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance.

Journal of human genetics - 1 Dec 2022

Sun Jiayu, Su Wenwen, Deng Jianwen, Qin Yao, Wang Zhaoxia, Liu Yuhe

Abstract excerpt

PURPOSE: To describe a novel DNA2 variant contributing to defects in mtDNA maintenance and mtDNA depletion syndrome (MDS), and the clinical and histological findings associated with this variation. METHODS: Herein, we describe the case of a patient who presented with hearing loss and myopathy, given the family history of similar findings in the father, was evaluated by sequencing of the deafness gene panel,...

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Identifiers

PMID: 36064591
DOI: 10.1038/s10038-022-01075-4
PMCID: PMC9691460

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