Description
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 diagnosis- Provides information on underlying mechanisms of mitochondrial disease- Includes basic mitochondrial dysfunction research through patient case studies to best illustrate the entire disease process
Table of Contents
1. Clinical Correlates of Mitochondrial Physiology and Disease2. MELAS-encoded diseases3. MELAS-(classic presentation)4. MERRF5. Pearson Syndrome6. Kearn-Sayre Syndrome7. Chronic Progressive External Ophthalmoplegia8. Leber Hereditary Optic Neuropathy9. Leigh Syndrome10. NARP11. Maternal Inherited Diabetes12. Sporadic Myopathy13. Pyruvate Dehydrogenase Complex Deficiencies14. Friedreich Ataxia15. Leigh Syndrome16. Reversible Myopathy17. Childhood Alpers-Huttenlocher Syndrome18. Juvenile Alpers-Huttenlocher Syndrome19. Autosomal dominant Progressive External Ophthalmoplegia20. c10orf2 (Twinkle)21. MPV17/Deoxyguanosine Kinase22. RRM2B23. Mitochondrial Nasogastric Intestinal Encephalopathy24. Thymidine Kinase25. OPA126. MFN227. Aminoacyl-tRNA synthetase (CNS)28. Aminoacyl-tRNA synthetase (Non-CNS)29. MTO130. Complex I31. Complex II32. Complex III (GRACILE)33. Complex IV34. Complex V35. Coenzyme Q10 (Primary Brain)36. Coenzyme Q10 (Primary Renal)
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- 電子書籍
- PRESIDENT 2019.8.30
