Monogenic Mitochondrial Disorders

2012512 citationsReviewgreen Open Access

Authors

Werner J.H. Koopman · Radboud University Medical Center

Peter H.G.M. Willems · Radboud Institute for Molecular Life Sciences

Abstract

Rare monogenic disorders of mitochondria have shed light on mitochondrial function, and the development of therapeutic agents for these disorders may be applicable to more common sporadic diseases characterized by mitochondrial dysfunction.

Topics & Keywords

Mitochondrial Function and Pathology Metabolism and Genetic Disorders ATP Synthase and ATPases Research

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: New England Journal of Medicine

Volume 366, Issue 12, pp. 1132-1141

DOI: 10.1056/nejmra1012478

Field-Weighted Citation Impact: 24.16