eBook - ePub
About this book
Mitochondrial Diseases, Volume 194 presents the most common clinical manifestations, providing an up-to-date summaries on the clinical presentations, diagnostic processes, genetic counseling and treatment options in mitochondrial diseases. Contents include specialist biochemical analyses and targeted molecular genetic testing, as well as first-line genome-wide sequencing to accelerate speed of diagnosis while avoiding time-consuming, expensive and invasive investigations. Establishing a genetic diagnosis allows patients with mitochondrial diseases to have reproductive options, all of which are covered within.This book is intended for neurologists to help them recognize and manage patients with mitochondrial diseases.
- Examines the pathophysiology of mitochondrial diseases and disorders
- Focuses on neurological symptoms of mitochondrial diseases
- Presents myopathies, neuropathies, epilepsy, ataxia, paraplegias, and more
- Covers histology, metabolism, genetic, and neuroimaging diagnostics
- Summarizes both available and emerging therapies
- Includes clinical trials, the use of biomarkers and reproductive options
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Yes, you can access Mitochondrial Diseases by in PDF and/or ePUB format, as well as other popular books in Medicine & Neurology. We have over one million books available in our catalogue for you to explore.
Information
Table of contents
- Cover image
- Table of Contents
- Series Page
- Copyright
- Available titles
- Foreword
- Preface
- Contributors
- Section I: Introduction to mitochondrial diseases
- Chapter 1: Mitochondrial disease in neurology—Past, present, and future
- Section II: Most common neurological manifestations of mitochondrial disease
- Chapter 2: Progressive external ophthalmoplegia
- Chapter 3: Mitochondrial optic neuropathies
- Chapter 4: Leigh syndrome
- Chapter 5: Stroke-like episodes in adult mitochondrial disease
- Chapter 6: Ataxia and spastic paraplegia in mitochondrial disease
- Chapter 7: Peripheral neuropathy in mitochondrial disease
- Chapter 8: Complex neurological and multisystem presentations in mitochondrial disease
- Section III: Diagnosing mitochondrial disease
- Chapter 9: Investigation of oxidative phosphorylation activity and complex composition in mitochondrial disease
- Chapter 10: Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis
- Chapter 11: Laboratory and metabolic investigations
- Chapter 12: Neuroimaging in mitochondrial disease
- Section IV: Therapy and future challenges
- Chapter 13: Currently available therapies in mitochondrial disease
- Chapter 14: Reproductive options in mitochondrial disease
- Chapter 15: Clinical trials in mitochondrial diseases
- Chapter 16: Blood biomarkers of mitochondrial disease—One for all or all for one?
- Chapter 17: Experimental therapy for mitochondrial diseases
- Index