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Neurology Genetics
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April 2020; 6 (2) ArticleOpen Access

Mitochondrial diseases in North America

An analysis of the NAMDC Registry

Emanuele Barca, Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro, Bruce H. Cohen, Amel Karaa, Georgirene D. Vladutiu, Richard Haas, Johan L.K. Van Hove, Fernando Scaglia, View ORCID ProfileSumit Parikh, Jirair K. Bedoyan, Susanne D. DeBrosse, Ralitza H. Gavrilova, Russell P. Saneto, Gregory M. Enns, Peter W. Stacpoole, Jaya Ganesh, Austin Larson, Zarazuela Zolkipli-Cunningham, Marni J. Falk, Amy C. Goldstein, Mark Tarnopolsky, Andrea Gropman, Kathryn Camp, Danuta Krotoski, Kristin Engelstad, Xiomara Q. Rosales, Joshua Kriger, Johnston Grier, Richard Buchsbaum, John L.P. Thompson, Michio Hirano
First published March 2, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000402
Emanuele Barca
From the Department of Neurology (E.B., V.E., S.D., K.E., X.Q.R., M.H.), Columbia University Medical Center, New York; Department of Biostatistics (Y.L., V.C., J.K., J. Grier, R.B., J.L.P.T.), Mailman School of Public Health, Columbia University, New York; Radboudumc (R.S.), Nijmegen, The Netherlands; Department of Pediatrics (B.H.C.), Northeast Ohio Medical University and Akron Children's Hospital; Genetics Unit (A.K.), Massachusetts General Hospital, Boston; Department of Pediatrics (G.D.V.), State University of New York at Buffalo; Departments of Neurosciences and Pediatrics (R.H.), University of California at San Diego; Department of Pediatrics (J.L.K.V.H., A.L.), University of Colorado School of Medicine, Aurora; Department of Molecular and Human Genetics (F.S.), Baylor College of Medicine, Houston, TX; Texas Children's Hospital (F.S.), Houston; Joint BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; Department of Neurology (S.P.), Cleveland Clinic, OH; Departments of Genetics and Genome Sciences and Pediatrics (J.K.B., S.D.D.), and Center for Human Genetics, University Hospitals Cleveland Medical Center, Case Western Reserve University, OH; Departments of Neurology and Clinical Genomics (R.H.G.), Mayo Clinic, Rochester, MN; Department of Neurology (R.P.S.), University of Washington, Seattle Children's Hospital; Department of Pediatrics (G.M.E.), Stanford University, Palo Alto, CA; Department of Medicine (P.W.S.), University of Florida at Gainesville; Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai (J. Ganesh), New York; Mitochondrial Medicine Frontier Program (Z.Z.-C., M.J.F., A.C.G.), Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; University of Pennsylvania Perelman School of Medicine (Z.Z.-C.), Philadelphia; Department of Neurology (M.T.), McMasters University, Toronto, Ontario, Canada; Department of Neurology (A.G.), Children's National Health Network, Washington, DC; Office of Dietary Supplements (K.C.), National Institutes of Health, Bethesda, MD; and Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.K.), National Institutes of Health, Bethesda, MD.
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Yuelin Long
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Victoria Cooley
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Robert Schoenaker
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Valentina Emmanuele
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Salvatore DiMauro
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Bruce H. Cohen
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Amel Karaa
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Georgirene D. Vladutiu
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Richard Haas
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Johan L.K. Van Hove
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Fernando Scaglia
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Sumit Parikh
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  • ORCID record for Sumit Parikh
Jirair K. Bedoyan
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Susanne D. DeBrosse
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Ralitza H. Gavrilova
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Russell P. Saneto
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Gregory M. Enns
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Peter W. Stacpoole
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Jaya Ganesh
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Austin Larson
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Zarazuela Zolkipli-Cunningham
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Marni J. Falk
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Amy C. Goldstein
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Mark Tarnopolsky
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Andrea Gropman
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Kathryn Camp
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Danuta Krotoski
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Kristin Engelstad
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Xiomara Q. Rosales
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Joshua Kriger
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Johnston Grier
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Richard Buchsbaum
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John L.P. Thompson
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Michio Hirano
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Full PDF
Citation
Mitochondrial diseases in North America
An analysis of the NAMDC Registry
Emanuele Barca, Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro, Bruce H. Cohen, Amel Karaa, Georgirene D. Vladutiu, Richard Haas, Johan L.K. Van Hove, Fernando Scaglia, Sumit Parikh, Jirair K. Bedoyan, Susanne D. DeBrosse, Ralitza H. Gavrilova, Russell P. Saneto, Gregory M. Enns, Peter W. Stacpoole, Jaya Ganesh, Austin Larson, Zarazuela Zolkipli-Cunningham, Marni J. Falk, Amy C. Goldstein, Mark Tarnopolsky, Andrea Gropman, Kathryn Camp, Danuta Krotoski, Kristin Engelstad, Xiomara Q. Rosales, Joshua Kriger, Johnston Grier, Richard Buchsbaum, John L.P. Thompson, Michio Hirano
Neurol Genet Apr 2020, 6 (2) e402; DOI: 10.1212/NXG.0000000000000402

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    Figure 1 Genes mutated in the canonical mitochondrial syndromes studied

    Gene pathogenic variants in North American Mitochondrial Disease Consortium Registry participants with canonical syndromes. cPEO = chronic progressive external ophthalmoplegia; LHON = Leber hereditary optic neuropathy; MELAS = mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MERRF = myoclonus epilepsy with ragged red fibers; mtDNA = mitochondrial DNA.

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    Figure 2 Nuclear gene pathogenic variant frequency in the North American Mitochondrial Disease Consortium Registry

    Each square represents 1 participant.

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  • Response to paper: "Mitochondrial diseases in North America"
    • Sophia Zilber, N/A, N/A
    Submitted April 27, 2020
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