Mitochondrial DNA mutations as a potential modifier for the clinical variability of Marfan syndrome

These data demonstrate frequent mitochondrial mutation in MFS and suggest that the mtDNA mutation might be a potential modifier of MFS phenotypes.

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Publication Details

Journal
QJM
Published
2025-09-18
DOI
https://doi.org/10.1093/qjmed/hcaf188
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
0.00
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article

Mitochondrial DNA mutations as a potential modifier for the clinical variability of Marfan syndrome

Yongting Luo, Xu Zhang, Hongjia Zhang, Junjie Luo et al.
QJM
Connective tissue disorders research
article

Mitochondrial DNA mutations as a potential modifier for the clinical variability of Marfan syndrome

Yongting Luo, Xu Zhang, Hongjia Zhang, Junjie Luo, Peng An, Yihua He, Zhengyang Zhang, Yuduo Wu
article en

Abstract

These data demonstrate frequent mitochondrial mutation in MFS and suggest that the mtDNA mutation might be a potential modifier of MFS phenotypes.

QJMVol. 118(12)
Ministry of Education of the People's Republic of China (CN), Beijing Technology and Business University (CN), Capital Medical University (CN), Beijing Anzhen Hospital (CN), Beijing Municipal Education Commission (CN), China Agricultural University (CN)
Openalex Percentile: Top 72%
Connective tissue disorders research
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