Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis

Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis offers the science behind mitochondrial disease with a case studies approach. Since mitochondrial diseases are diverse and influenced by genetic, environmental, and social-economic factors, this publication will help students, physicians, scientists, health care students, and families recognize and accurately diagnose mitochondrial disease and learn about potential treatments.

Reviews case studies as a helpful teaching tool to increase awareness and improve diagnosisProvides information on underlying mechanisms of mitochondrial diseaseIncludes basic mitochondrial dysfunction research through patient case studies to best illustrate the entire disease process

1. Clinical Correlates of Mitochondrial Physiology and Disease 2. MELAS-encoded diseases 3. MELAS-(classic presentation) 4. MERRF 5. Pearson Syndrome 6. Kearn-Sayre Syndrome 7. Chronic Progressive External Ophthalmoplegia 8. Leber Hereditary Optic Neuropathy 9. Leigh Syndrome 10. NARP 11. Maternal Inherited Diabetes 12. Sporadic Myopathy 13. Pyruvate Dehydrogenase Complex Deficiencies 14. Friedreich Ataxia 15. Leigh Syndrome 16. Reversible Myopathy 17. Childhood Alpers-Huttenlocher Syndrome 18. Juvenile Alpers-Huttenlocher Syndrome 19. Autosomal dominant Progressive External Ophthalmoplegia 20. c10orf2 (Twinkle) 21. MPV17/Deoxyguanosine Kinase 22. RRM2B 23. Mitochondrial Nasogastric Intestinal Encephalopathy 24. Thymidine Kinase 25. OPA1 26. MFN2 27. Aminoacyl-tRNA synthetase (CNS) 28. Aminoacyl-tRNA synthetase (Non-CNS) 29. MTO1 30. Complex I 31. Complex II 32. Complex III (GRACILE) 33. Complex IV 34. Complex V 35. Coenzyme Q10 (Primary Brain) 36. Coenzyme Q10 (Primary Renal)