Mitochondrial Disease Genes Compendium: From Genes to Clinical Manifestations

Mitochondrial Disease Genes Compendium: From Genes to Clinical Manifestations provides an all-in-one reference on mitochondrial disease from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition. Each gene page? offers an in-depth view of clinical disease spectrums, including inheritance pattern, age ranges affected, major clinical features, known therapies, available support groups, and gene-specific basic or translational research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, fresh genomic variant data, and bioinformatics tools, ensuring access to updated information on each condition. Covering over 300 mitochondrial disease genes, this book is ideal for clinicians and researchers. Provides a readily intelligible, all-in-one reference of known mitochondrial disease genes and their associated conditionsFeatures live links to Mitochondrial Disease Sequence Data Resource (MSeqDR) pages with regularly updated genetic variant data and bioinformatics toolsCovers the inheritance pattern, age spectrum affected, major clinical features, therapeutics, support groups, and research currently under way for over 300 mitochondrial diseases INDICE: 1. Introduction2. MSeqDR Overview3. Gene4. Closing

• ISBN: 978-0-12-820029-2
• Editorial: Academic Press
• Encuadernacion: Rústica
• Páginas: 424
• Fecha Publicación: 01/05/2020
• Nº Volúmenes: 1
• Idioma: Inglés