Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

• Tyler Mark Pierson ,

  Contributed equally to this work with: Tyler Mark Pierson, David Adams, Florian Bonn

  * E-mail: piersonty@ninds.nih.gov

  Affiliations NIH Undiagnosed Diseases Program, National Institutes of Health Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland, United States of America, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America

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• David Adams ,

  Contributed equally to this work with: Tyler Mark Pierson, David Adams, Florian Bonn

  Affiliations NIH Undiagnosed Diseases Program, National Institutes of Health Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Florian Bonn ,

  Contributed equally to this work with: Tyler Mark Pierson, David Adams, Florian Bonn

  Affiliation Institute for Genetics, University of Cologne, Cologne, Germany

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• Paola Martinelli,

  Affiliation Biocenter, University of Cologne, Cologne, Germany

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• Praveen F. Cherukuri,

  Affiliation Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Jamie K. Teer,

  Affiliation Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda Maryland, United States of America

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• Nancy F. Hansen,

  Affiliation Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Pedro Cruz,

  Affiliation Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• James C. Mullikin for the NISC Comparative Sequencing Program,

  Affiliations Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Robert W. Blakesley,

  Affiliation Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Gretchen Golas,

  Affiliations NIH Undiagnosed Diseases Program, National Institutes of Health Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Justin Kwan,

  Affiliation EMG Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America

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• Anthony Sandler,

  Affiliation Division of Surgery, Children's National Medical Center, Washington, D.C., United States of America

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• Karin Fuentes Fajardo,

  Affiliation NIH Undiagnosed Diseases Program, National Institutes of Health Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland, United States of America

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• Thomas Markello,

  Affiliations NIH Undiagnosed Diseases Program, National Institutes of Health Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Cynthia Tifft,

  Affiliations NIH Undiagnosed Diseases Program, National Institutes of Health Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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• Craig Blackstone,

  Affiliation Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America

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• Elena I. Rugarli,

  Affiliation Biocenter, University of Cologne, Cologne, Germany

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• Thomas Langer,

  Affiliations Institute for Genetics, Center for Molecular Medicine (CMMC), Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany, Max-Planck-Institute for Biology of Aging, Cologne, Germany

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• William A. Gahl,

  Affiliations NIH Undiagnosed Diseases Program, National Institutes of Health Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland, United States of America, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America

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•  [ ... ],
• Camilo Toro

  Affiliation NIH Undiagnosed Diseases Program, National Institutes of Health Office of Rare Diseases Research and National Human Genome Research Institute, Bethesda, Maryland, United States of America

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