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Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions

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This study aimed to investigate the clinical and genetic spectrum in Chinese patients with multiple mtDNA deletions presenting with autosomal‐inherited mitochondrial progressive external ophthalmoplegia (PEO). Click to show full abstract

This study aimed to investigate the clinical and genetic spectrum in Chinese patients with multiple mtDNA deletions presenting with autosomal‐inherited mitochondrial progressive external ophthalmoplegia (PEO).

Keywords: multiple mtdna; progressive external; patients multiple; external ophthalmoplegia; mtdna deletions

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022

Link to full text (if available)


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