Novel DNA2 Mutation Leading to Mitochondrial DNA Deletions with MELAS-like Phenotype (P2-11.031)

To describe a patient with adult-onset encephalomyopathy who was found to have a novel nonsense DNA replicase helicase/nuclease 2 (DNA2) mutation, with reduced mitochondrial-DNA (mtDNA) content and multiple mtDNA deletions.

Authors

Pitcha Chompoopong (ORCID: https://orcid.org/0000-0001-9682-2372)
Abhigyan Datta (ORCID: https://orcid.org/0000-0002-2269-546X)
Georgios Manousakis (ORCID: https://orcid.org/0000-0002-8309-9426)

Institutions

University of Minnesota System (US)

Publication Details

Journal: Neurology
Published: 2025-04-07
DOI: https://doi.org/10.1212/wnl.0000000000210895
Citations: 1
Primary Topic: Mitochondrial Function and Pathology
Type: article
Field-Weighted Citation Impact: 0.81

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article

Novel DNA2 Mutation Leading to Mitochondrial DNA Deletions with MELAS-like Phenotype (P2-11.031)

Pitcha Chompoopong, Abhigyan Datta, Georgios Manousakis

Apr 7, 2025

1 citations

Neurology

Mitochondrial Function and Pathology

0.81

article

Novel DNA2 Mutation Leading to Mitochondrial DNA Deletions with MELAS-like Phenotype (P2-11.031)

Pitcha Chompoopong, Abhigyan Datta, Georgios Manousakis

April 7, 2025article en

1 citations

Abstract

NeurologyVol. 104(7_Supplement_1)

University of Minnesota System (US)

Zero hunger

Openalex Percentile: Top 29%

Mitochondrial Function and Pathology

0.81

DOI Source OpenAlex

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Novel DNA2 Mutation Leading to Mitochondrial DNA Deletions with MELAS-like Phenotype (P2-11.031) — Pitcha Chompoopong, Abhigyan Datta, et al. · Neurology (2025) | TGRS Research Map | TGRS