A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia

Keyphrases

• Autosomal Dominant 100%
• Gene mutation 100%
• Twinkle 100%
• Progressive External Ophthalmoplegia 100%
• Mitochondrial DNA mutation 66%
• Mitochondrial Disease 33%
• Diagnostic Challenge 33%
• Southern Blotting 33%
• Real-time Polymerase Chain Reaction Assay 33%
• Mitochondrial DNA 33%
• Transversion 33%
• Muscle Biopsy 33%
• Multiple Deletions 33%
• Deltoid muscle 33%
• Respiratory Deficient 33%
• Neurological Presentations 33%

Medicine and Dentistry

• Autosomal Dominant Inheritance 100%
• Gene Mutation 100%
• Mitochondrial DNA 100%
• Chronic Progressive External Ophthalmoplegia 100%
• Index Case 66%
• Real Time Polymerase Chain Reaction 33%
• Diagnosis 33%
• Southern Blotting 33%
• Disorders of Mitochondrial Functions 33%
• Muscle Biopsy 33%
• Deltoid Muscle 33%

Neuroscience

• Gene Mutation 100%
• Mitochondrial DNA 100%
• Ophthalmoparesis 100%
• Mitochondrial Disease 33%
• Real-Time Polymerase Chain Reaction 33%
• Deltoid Muscle 33%