Mitochondrial Disease Genes Compendium

Mitochondrial Disease Genes Compendium
Author :
Publisher : Academic Press
Total Pages : 548
Release :
ISBN-10 : 9780128200292
ISBN-13 : 0128200294
Rating : 4/5 (294 Downloads)

Book Synopsis Mitochondrial Disease Genes Compendium by : Marni J. Falk

Download or read book Mitochondrial Disease Genes Compendium written by Marni J. Falk and published by Academic Press. This book was released on 2020-04-29 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual's disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from a genomic perspective. Here, in the Mitochondrial Disease Genes Compendium, Dr. Marni Falk and a team of international experts have built off their work on MSeqDR to provide an all-in-one, readily accessible, and easy-to-use at point of care reference on 256 mitochondrial disease genes 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. Within, each "gene page" offers an in-depth, referenced view of the relevant clinical disease spectrum, including gene and protein descriptions, year discovered, inheritance pattern(s), age ranges affected, major clinical features and severity range, clinical pearls, known therapies, available support groups, animal models, and gene-specific basic, translational, or clinical research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, up-to-date genomic variant data, and user friendly informatics tools accessible to general clinicians and sophisticated geneticists or bioinformaticians alike, ensuring access to updated information on each condition.


Mitochondrial Disease Genes Compendium Related Books

Mitochondrial Disease Genes Compendium
Language: en
Pages: 548
Authors: Marni J. Falk
Categories: Science
Type: BOOK - Published: 2020-04-29 - Publisher: Academic Press

GET EBOOK

The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described
Genetics of Mitochondrial Diseases
Language: en
Pages: 0
Authors: Ian James Holt
Categories: Mitochondrial DNA
Type: BOOK - Published: 2023 - Publisher:

GET EBOOK

This text summarises the advances in human mitochondrial genetics made at the end of the 20th century. Numerous mutations of mitochondrial DNA have been discove
Mitochondrial Disorders Caused by Nuclear Genes
Language: en
Pages: 364
Authors: Lee-Jun C. Wong
Categories: Medical
Type: BOOK - Published: 2012-09-18 - Publisher: Springer Science & Business Media

GET EBOOK

Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (
Mitochondrial Dysfunction
Language: en
Pages: 527
Authors: Lawrence H. Lash
Categories: Science
Type: BOOK - Published: 2013-10-22 - Publisher: Elsevier

GET EBOOK

Methods in Toxicology, Volume 2: Mitochondrial Dysfunction provides a source of methods, techniques, and experimental approaches for studying the role of abnorm
Mitochondrial Disorders in Neurology
Language: en
Pages: 265
Authors: Anthony H.V. Schapira
Categories: Medical
Type: BOOK - Published: 2013-10-22 - Publisher: Butterworth-Heinemann

GET EBOOK

Mitochondrial Disorders in Neurology provides an overview of mitochondrial diseases. This book discusses the effects of mitochondrial dysfunction based on the r