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
2. Mitochondrial retinopathy;Birtel J.;Ophthalmology Retina,2021
3. Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis
4. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants
5. Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease
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1. 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
2. Pontine stroke in a patient with Chronic Progressive External Ophthalmoplegia (CPEO): a case report;BMC Neurology;2023-06-14
3. POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature;The Cerebellum;2023-04-22
4. Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern;Journal of Human Genetics;2023-03-23
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