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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.
Inhaltsverzeichnis
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)
Über den Autor / die Autorin
Russell P. Saneto is a pediatric neurologist who specializes in diagnosis and treatment of mitochondrial disorders and intractable epilepsy. His PhD was in human biochemical genetics was obtained at the University of Texas Medical Branch. His medical degree was obtained from the Des Moines University of Osteopathic Medicine and he did his pediatric, pediatric neurology, and pediatric neurophysiology fellowship at the Cleveland Clinic in Ohio. He began diagnosing and treatment of mitochondrial disease during residency and has continued studying this disorder during his career at Seattle Children’s Hospital over the past 15 years. He is currently the Head of the Mitochondrial Medicine group at Seattle Children’s and is a professor in the department of Neurology and adjunct Professor in Pediatrics. He has appointments in both Pediatrics and Neurology at Seattle Children’s and University of Washington.Sumit Parikh, MD is the Director of the Cleveland Clinic Neurogenetics, Metabolic & Mitochondrial disease program. Dr. Parikh completed his residency in pediatrics and fellowship in child neurology at the Children's Hospital of Pittsburgh. He received additional training in genetics and metabolism at Cleveland Clinic and Centers for Inherited Diseases of Metabolism. Dr. Parikh is part of the North American Mitochondrial Disease Research Consortium (NAMDC) and the Primary Investigator for the Pearson Syndrome Natural History study. He serves as the current chair of the United Mitochondrial Disease Foundation Scientific & Medical Advisor Board. He is the immediate Past-President of the Mitochondrial Medicine Society.
