Mitochondrial Diseases

Rita Horvath · Michio Hirano · Patrick F. Chinnery

2023年2月 · Handbook of Clinical Neurology 第 194 本图书 · Elsevier

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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

作者简介

Rita Horvath works in the Department of Clinical Neurosciences at the University of Cambridge, John van Geest Centre for Brain Repair, Cambridge, United Kingdom

Michio Hirano is the Lucy G. Moses Professor, Director of the H. Houston Merritt Neuromuscular Research Center, and Chief of the Division of Neuromuscular Medicine in the Department of Neurology at the Columbia University Irving Medical Center, New York, NY, United States.

Patrick Francis Chinnery works at the MRC Mitochondrial Biology Unit and Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.