Springer - Mitochondrial Disorders Caused by Nuclear Genes

This specialized medical text provides a comprehensive survey of mutations within the inherited maternal mitochondrial genome and nuclear DNA. It serves as a detailed resource for understanding the biochemical, molecular, clinical, and genetic aspects of various syndromes. The book examines the complex nature of heterogeneous mitochondrial diseases caused by specific genes. It offers deep insights into mitochondrial cytopathies, which result from mutations in the mitochondrial genome or nuclear DNA. Readers will gain a better understanding of mitochondrial respiratory chain disorders (RCD), a group of diseases characterized by genetic and clinical heterogeneity. Because protein components of the respiratory chain are encoded by both mitochondrial and nuclear DNA, this volume addresses the fundamental biological mechanisms at play. This resource is designed for medical professionals and researchers seeking to understand the specific genetic drivers behind these complex mitochondrial conditions.