Mitochondrial DNA Medicine-Reference-Cited by-同舟云学术

Mitochondrial DNA Medicine

Published:2007-06-13 Issue:1-3 Volume:27 Page:5-9
ISSN:0144-8463
Container-title:Bioscience Reports
language:en
Short-container-title:

Author:

DiMauro Salvatore¹

Affiliation:

1. Department of Neurology, Columbia University Medical Center, 4-420 College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA

Abstract

The small, maternally inherited mitochondrial DNA (mtDNA) has turned out to be a hotbed of pathogenic mutations: 15 years into the era of ‘mitochondrial medicine’, over 150 pathogenic point mutations and countless rearrangements have been associated with a variety of multisystemic or tissue-specific human diseases. MtDNA-related disorders can be divided into two major groups: those due to mutations in genes affecting mitochondrial protein synthesis in toto and those due to mutations in specific protein-coding genes. Here we review the mitochondrial genetics and the clinical features of the mtDNA-related diseases.

Publisher

Portland Press Ltd.

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Link

https://portlandpress.com/bioscirep/article-pdf/27/1-3/5/474433/bsr0270005.pdf

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