Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions
Author:
Affiliation:
1. Department of Neurology Peking University First Hospital Beijing China
2. Department of Geriatrics Peking University First Hospital Beijing China
3. Beijing Key Laboratory of Neurovascular Disease Discovery Beijing China
Funder
Beijing Municipal Science and Technology Commission
Ministry of Science and Technology of the People's Republic of China
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1921
Reference43 articles.
1. Familial Parkinsonism and Ophthalmoplegia From a Mutation in the Mitochondrial DNA Helicase Twinkle
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1. The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross‐sectional study;Clinical Genetics;2024-08-09
2. The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions;Molecular Genetics & Genomic Medicine;2023-11-28
3. Pontine stroke in a patient with Chronic Progressive External Ophthalmoplegia (CPEO): a case report;BMC Neurology;2023-06-14
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