Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations
Lee-Jun Wong1, Robert K. Naviaux2, Nicola Brunetti‐Pierri3, Qing Zhang3, Eric Schmitt3, Cavatina K. Truong3, Margherita Milone4, Bruce H. Cohen5, Beverly Wical6, Jaya Ganesh7, Alice Basinger8, Barbara K. Burton9, Kathryn J. Swoboda10, Donald L. Gilbert11, Adeline Vanderver12, Russell P. Saneto13, Bruno Maranda14, Georgianne Arnold15, José E. Abdenur16, Paula J. Waters17, William C. Copeland18
1Baylor college of Medicine;
2Departments of Medicine and Pediatrics, The Mitochondrial and Metabolic Disease Center, University of California, San Diego, CA
3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
4Department of Neurology, Mayo Clinic, Rochester, MN
5Neurological Institute, Cleveland Clinic, Cleveland, Ohio
6Gillette Children's Specialty Healthcare, St. Paul, MN
7Section of Biochemical Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia PA
8Division of Genetics, Cook Children's Physician Network, Fort Worth, TX
9Division of Genetics, Birth Defects and Metabolism, Children's Memorial Hospital, Chicago, IL
10Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT
11Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
12Department of Neurology, Children's National Medical Center, Washington, DC
13Division of Pediatric Neurology Children's Hospital and Regional Medical Center/ University of Washington Seattle, WA, .
14Service de Génétique médicale, Département de pédiatrie, CHUL-CHUQ, Université Laval, Québec, Canada
15Division of Pediatrics and Genetics, University of Rochester School of Medicine and Dentistry, Rochester, NY
16Children's Hospital of Orange County, Orange, CA
17Department of Pathology, Laboratory Genetics Division, Children's & Women's Health Centre of British Columbia and University of British Columbia, Vancouver, Canada
18Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC