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Mitochondrial Diseases

1st Edition, Volume 194 - February 20, 2023

Editors: Rita Horvath, Michio Hirano, Patrick F. Chinnery

Language: English
Hardback ISBN:
9 7 8 - 0 - 1 2 - 8 2 1 7 5 1 - 1
eBook ISBN:
9 7 8 - 0 - 1 2 - 8 2 1 7 6 1 - 0

Mitochondrial Diseases, Volume 194 presents the most common clinical manifestations, providing an up-to-date summaries on the clinical presentations, diagnostic processes, geneti… Read more

Mitochondrial Diseases

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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.