Mitochondrial Diseases: A Comprehensive Guide for Neurologists

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.

Clinical Presentations and Diagnostic Approaches

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.

Genetic Diagnosis and Reproductive Options

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

• Publisher: Elsevier
• Edition: 1st edition
• Publication Date: June 30, 2023
• Language: English
• Hardcover: 302 pages
• ISBN-10: 0128217510
• ISBN-13: 978-0128217511

This authoritative resource is an essential tool for neurologists seeking to recognize and manage patients with mitochondrial diseases effectively.