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Edited by Rita Horvath, Michio Hirano, and Patrick F. Chinnery, Mitochondrial Diseases, Volume 194 offers a cutting-edge resource for neurologists to diagnose and manage mitochondrial diseases. This valuable reference provides an up-to-date summary of the clinical manifestations, diagnostic processes, genetic counseling, and treatment options for patients with these complex disorders.
The book presents a comprehensive overview of the clinical presentations of mitochondrial diseases, including the latest specialist biochemical analyses and targeted molecular genetic testing. Additionally, the role of first-line genome-wide sequencing is discussed, highlighting its potential to accelerate diagnosis and reduce the need for time-consuming and invasive investigations.
A crucial aspect of managing mitochondrial diseases is establishing a genetic diagnosis, which enables patients to explore reproductive options. This volume covers the various options available, providing neurologists with the necessary knowledge to counsel their patients effectively.
Book Details
This authoritative resource is an essential tool for neurologists seeking to recognize and manage patients with mitochondrial diseases effectively.
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