About the Authors

Min Peng

Contributed equally to this work with: Min Peng, Marni J. Falk

Affiliation Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

Marni J. Falk

Contributed equally to this work with: Min Peng, Marni J. Falk

Affiliation Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

Volker H. Haase

Affiliation Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

Rhonda King

Affiliation Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

Erzsebet Polyak

Affiliation Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

Mary Selak

Affiliation Mitochondrial Research Laboratory, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

Marc Yudkoff

Affiliation Department of Pediatrics, Division of Metabolism, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

Wayne W. Hancock

Affiliation Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

Ray Meade

Affiliation Biomedical Imaging Core Facility, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

Ryoichi Saiki

Affiliation Department of Chemistry and Biochemistry, University of California Los Angeles, Los Angeles, California, United States of America

Adam L. Lunceford

Affiliation Department of Chemistry and Biochemistry, University of California Los Angeles, Los Angeles, California, United States of America

Catherine F. Clarke

Affiliation Department of Chemistry and Biochemistry, University of California Los Angeles, Los Angeles, California, United States of America

David L. Gasser

gasserd@mail.med.upenn.edu

Affiliation Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: MF VH MY WH CC DG. Performed the experiments: MP EP MS RM RS AL CC. Analyzed the data: MP MF VH RK MS MY WH RS AL CC DG. Wrote the paper: MF VH WH CC DG. Made the constructs: MP. Scored the histological sections: RK. Did assays on mitochondrial function: EP.