Mitochondrial Disorders in Neurology provides an overview of mitochondrial diseases. This book discusses the effects of mitochondrial dysfunction based on the relevant biochemistry and molecular genetics. The abnormal muscle and mitochondrial morphology in a variety of clinical presentations from isolated ophthalmoplegia to severe encephalopathy are also elaborated. This text likewise deliberates Leber's hereditary optic neuropathy, neurodegenerative disorders, and respiratory chain defects. Other topics covered include mitochondrial DNA and the genetics of mitochondrial disease; cytochrome oxidase deficiency; use of tissue culture in the diagnosis of mitochondrial disease; and advances in mitochondrial genetics. This publication is a good source for clinicians and students concerned with the defective mitochondrial function.
List of Contributors Preface 1 The Structural Organization of the Mitochondrial Respiratory Chain 2 Mitochondrial DNA and the Genetics of Mitochondrial Disease 3 Mitochondrial Myopathies: Clinical Features, Investigation, Treatment and Genetic Counseling 4 Biochemical and Molecular Features of Deficiencies of Complexes I, II and III 5 Cytochrome Oxidase Deficiency: Progress and Problems 6 Mitochondrial Encephalomyopathies: Lumping, Splitting and Melding 7 Intermediary Metabolism 8 Human Defects of ß-oxidation: Clinical and Molecular Aspects 9 The Use of Tissue Culture in the Diagnosis of Mitochondrial Disease 10 Leber's Hereditary Optic Neuropathy 11 Recent Advances in Mitochondrial Genetics 12 Mitochondrial Dysfunction in Neurodegenerative Disorders and Aging Index
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- © Butterworth-Heinemann 1994
- 1st November 1993
- eBook ISBN: