Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report

Keyphrases

• Affection 16%
• Anticodon 16%
• Buccal mucosa 16%
• Chronic Progressive External Ophthalmoplegia 16%
• Conserved Sites 16%
• Early Embryonic Development 16%
• Elevated Lactate 16%
• Exercise Intolerance 100%
• Exercise Test 16%
• Heteroplasmy 16%
• Lactate-to-pyruvate Ratio 16%
• Leucine 16%
• Maximal Oxygen Uptake 16%
• Mesoderm 16%
• Mitochondrial DNA 16%
• Mitochondrial DNA mutation 16%
• Mitochondrial Myopathy 16%
• Mitochondrial tRNA 16%
• Muscle Stem Cell (MuSC) 16%
• Myopathic 16%
• Myopathy 16%
• Objective Test 16%
• Older Men 16%
• Ophthalmoplegia 100%
• Physiological Studies 16%
• Rare Phenotype 16%
• Respiratory Chain Deficiency 16%
• Skeletal muscle 33%
• Study Support 16%
• Urine Sediment 16%

Medicine and Dentistry

• Anticodon 16%
• Buccal Mucosa 16%
• Chronic Progressive External Ophthalmoplegia 16%
• DNA Mutation 16%
• Embryo Development 16%
• Exercise Intolerance 100%
• Exercise Test 16%
• Lactic Acid 16%
• Leucine Transfer RNA 16%
• Maximal Oxygen Uptake 16%
• Mesoderm 16%
• Mitochondrial DNA 33%
• Mitochondrial Myopathy 16%
• Myopathy 16%
• Ophthalmoparesis 100%
• Progenitor Cell 16%
• Pyruvic Acid 16%
• Respiratory Chain 16%
• Skeletal Muscle 33%
• Urinary System 16%