Mitochondrial Case Studies : Underlying Mechanisms and Diagnosis

Saneto, Russell (EDT)/ Parikh, Sumit (EDT)/ Cohen, Bruce H (EDT)

Academic Press Inc（2015/12発売）

• 製本 Hardcover:ハードカバー版／ページ数 338 p.
• 言語 ENG
• 商品コード 9780128008775
• DDC分類 571.657

Full 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.

Contents

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)