Identification and characterization of new RNASEH1 mutations associated with PEO syndrome and multiple mitochondrial DNA deletions

Keyphrases

• Progressive External Ophthalmoplegia 100%
• Mitochondrial DNA mutation 100%
• RNase H1 100%
• Mitochondrial DNA Replication 50%
• Ribonuclease 25%
• Functional Studies 25%
• Adult-onset 25%
• Clinical Phenotype 25%
• Pathogenicity 25%
• Mitochondrial DNA Maintenance 25%
• Homozygous mutation 25%
• Mitochondrial DNA Copy number 25%
• Catalytic Domain 25%
• In Silico Study 25%
• Mitochondrial Myopathy 25%
• Patient Fibroblasts 25%
• Mitochondrial DNA Depletion 25%
• Hepatocerebral 25%
• MtDNA Depletion 25%
• Ethidium Bromide 25%
• Connected Domain 25%
• Multiple Deletions 25%

Biochemistry, Genetics and Molecular Biology

• Chronic Progressive External Ophthalmoplegia 100%
• Mitochondrial DNA 100%
• Mitochondrial DNA Replication 50%
• Mitochondrial DNA Depletion 50%
• Ribonuclease 25%
• Gene Dosage 25%
• In Silico Study 25%
• Enzyme Active Site 25%
• Mitochondrial Myopathy 25%
• Fibroblast 25%
• Ethidium Bromide 25%