Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes

• Margaret A. Gustafson ,

  Contributed equally to this work with: Margaret A. Gustafson, Elizabeth M. McCormick, Lalith Perera

  Roles Data curation, Formal analysis, Investigation, Methodology, Writing – original draft, Writing – review & editing

  Affiliation Genome Integrity and Structural Biology Laboratory, NIEHS, NIH, Research Triangle Park, NC, United States of America

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• Elizabeth M. McCormick ,

  Contributed equally to this work with: Margaret A. Gustafson, Elizabeth M. McCormick, Lalith Perera

  Roles Data curation, Investigation, Writing – original draft, Writing – review & editing

  Affiliation Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA, United States of America

  http://orcid.org/0000-0002-5478-8046

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• Lalith Perera ,

  Contributed equally to this work with: Margaret A. Gustafson, Elizabeth M. McCormick, Lalith Perera

  Roles Formal analysis, Investigation, Methodology, Writing – original draft, Writing – review & editing

  Affiliation Genome Integrity and Structural Biology Laboratory, NIEHS, NIH, Research Triangle Park, NC, United States of America

  ⨯
• Matthew J. Longley,

  Roles Methodology, Supervision, Writing – review & editing

  Affiliation Genome Integrity and Structural Biology Laboratory, NIEHS, NIH, Research Triangle Park, NC, United States of America

  ⨯
• Renkui Bai,

  Roles Formal analysis, Methodology, Writing – review & editing

  Affiliation GeneDx, Gaithersburg, MD, United States of America

  ⨯
• Jianping Kong,

  Roles Formal analysis, Methodology, Writing – review & editing

  Affiliation Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA, United States of America

  ⨯
• Matthew Dulik,

  Roles Formal analysis, Methodology, Writing – review & editing

  Affiliations Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA, United States of America, Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA, United States of America

  ⨯
• Lishuang Shen,

  Roles Data curation, Formal analysis, Methodology, Writing – review & editing

  Affiliation Center for Personalized Medicine, Department of Pathology & Laboratory Medicine, Children’s Hospital Los Angeles, Los Angeles, CA, United States of America

  http://orcid.org/0000-0002-0436-0199

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• Amy C. Goldstein,

  Roles Investigation, Writing – review & editing

  Affiliations Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA, United States of America, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States of America

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• Shana E. McCormack,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliations Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA, United States of America, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States of America, Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America

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• Benjamin L. Laskin,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliations Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States of America, Division of Nephrology, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America

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• Bart P. Leroy,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliations Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium, Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium, Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America

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• Xilma R. Ortiz-Gonzalez,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliation Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America

  http://orcid.org/0000-0002-1710-4696

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• Meredith G. Ellington,

  Roles Formal analysis, Investigation, Methodology, Writing – review & editing

  Affiliation Genome Integrity and Structural Biology Laboratory, NIEHS, NIH, Research Triangle Park, NC, United States of America

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• William C. Copeland ,

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Supervision, Visualization, Writing – original draft, Writing – review & editing

  ¶‡These authors also contributed equally to this work.

  Affiliation Genome Integrity and Structural Biology Laboratory, NIEHS, NIH, Research Triangle Park, NC, United States of America

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•  [ ... ],
• Marni J. Falk

  Roles Conceptualization, Data curation, Funding acquisition, Investigation, Methodology, Project administration, Supervision, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: falkm@email.chop.edu

  ¶‡These authors also contributed equally to this work.

  Affiliations Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA, United States of America, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States of America

  http://orcid.org/0000-0002-1723-6728

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