Diagnosis and Management of Mitochondrial Disorders

Inbunden, Engelska, 2019

Av Michelangelo Mancuso, Thomas Klopstock

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This book will help readers navigate the complexity of mitochondrial disorders, by addressing the role of mitochondrial dysfunction and the complex pathophysiological mechanisms associated with a growing number of illnesses, not only of neurological interest. Further, it provides updated concepts on genotype-phenotype correlations, clinical syndromes, diagnostic algorithms and therapies. Written by the world’s foremost mitochondrial researchers, the book comprehensively presents the state-of-the-art in mitochondrial medicine, making it of interest to a wide variety of specialists, including neurologists, geneticists, internists and biologists.

Produktinformation

Utgivningsdatum2019-05-16
Mått178 x 254 x 26 mm
Vikt1 021 g
FormatInbunden
SpråkEngelska
Antal sidor382
FörlagSpringer Nature Switzerland AG
ISBN9783030055165

Tillhör följande kategorier

Medicinsk genetik inom Medicin
Klinisk medicin och internmedicin inom Medicin
Neurologi och klinisk neurofysiologi inom Medicin

Dr. Mancuso is the head of the Centre of Clinical Neurogenetics responsible for mitochondrial diseases and rare diseases at the Neurological Institute of University of Pisa, Italy (Orphanet Center EUGTIT247621). He is actively involved in multiple projects mainly focusing on mitochondrial diseases. Dr. Mancuso is the Coordinator of the Italian Network of Mitochondrial Diseases, and is also a member of the International Consortium of Mitochondrial Diseases. Dr. Klopstock is a Professor of Neurology and Consultant Physician, Friedrich-Baur-Institute, Dept. of Neurology, LMU Munich, Germany. He has extensive clinical and scientific expertise in mitochondrial and other neurogenetic disorders. He currently manages an outpatient clinic for neurogenetics, and is the coordinator of the German network for mitochondrial disorders (mitoNET), as well as a member of the International Consortium of Mitochondrial Diseases.

Mitochondrial Medicine: an Historical Point of View,- Mitochondrial Biology and Function.- Mitochondrial Genetics.- Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS Syndrome).- Myoclonic Epilepsy with Ragged Red Fibers (MERRF Syndrome).- Leber Hereditary Optic Neuropathy (LHON).- Progressive External Ophthalmoplegia (PEO).- Leigh Syndrome.- Mitochondrial Depletion Syndromes.- Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE).- Mitochondrial Neurodegenerative Disorders I: Dementia and Parkinsonisms.- Mitochondrial Neurodegenerative Disorders II: Ataxia & Dystonia, Leukidystrophies.- Mitochondria & Heart.- Mitochondria & Liver.- Mitochondria & Respiratory Involvement.- Mitochondrial Endocrinology.- Diagnostic Approach to Mitochondrial Disease.- Mitochondrial Replacement Approaches.- Exercise/Training.- Mitochondrial Symptomatic Treatments.- Experimental Therapies.