Response to Newman et al

Sumit Parikh¹, Amy Goldstein², Amel Karaa³, Mary Kay Koenig⁴, Irina Anselm⁵, Catherine Brunel-Guitton⁶, John Christodoulou⁷, Bruce H Cohen⁸, David Dimmock⁹, Gregory M Enns¹⁰, Marni J Falk¹¹, Annette Feigenbaum^{12

13}, Richard E Frye¹⁴, Jaya Ganesh¹⁵, David Griesemer¹⁶, Richard Haas^{17

18}, Rita Horvath¹⁹, Mark Korson²⁰, Michael C Kruer²¹, Michelangelo Mancuso²², Shana McCormack²³, Marie Josee Raboisson²⁴, Tyler Reimschisel²⁵, Ramona Salvarinova²⁶, Russell P Saneto²⁷, Fernando Scaglia²⁸, John Shoffner²⁹, Peter W Stacpoole³⁰, Carolyn M Sue³¹, Mark Tarnopolsky³², Clara Van Karnebeek^{33

34}, Lynne A Wolfe³⁵, Zarazuela Zolkipli Cunningham³⁶, Shamima Rahman³⁷, Patrick F Chinnery³⁸

Affiliations

¹ Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio, USA.
² Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
³ Division of Genetics, Massachusetts General Hospital, Boston, Massachusetts, USA.
⁴ Division of Child and Adolescent Neurology, University of Texas Medical School at Houston, Houston, Texas, USA.
⁵ Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
⁶ Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
⁷ Neurodevelopmental Genomics Research Group, Murdoch Childrens Research Institute, and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria, Australia.
⁸ Neurodevelopmental Science Center, Children's Hospital Medical Center of Akron, Akron, Ohio, USA.
⁹ Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
¹⁰ Division of Medical Genetics, Department of Pediatrics, Stanford University Lucile Packard Children's Hospital, Palo Alto, California, USA.
¹¹ Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
¹² Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
¹³ Department of Pediatrics, University of California San Diego and Rady Childrens Hospital, San Diego, California, USA.
¹⁴ Department of Pediatrics, University of Arkansas Medical Sciences, Little Rock, Arkansas, USA.
¹⁵ Division of Genetics, Department of Pediatrics, Cooper Medical School at Rowan University, Camden, New Jersey, USA.
¹⁶ Division of Neurology, Levine Children's Hospital, Charlotte, North Carolina, USA.
¹⁷ Departments of Neurosciences and Pediatrics, University of California San Diego, La Jolla, California, USA.
¹⁸ Department of Neurosciences, Rady Children's Hospital, San Diego, California, USA.
¹⁹ Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
²⁰ Genetic Metabolic Center for Education, Salem, Massachusetts, USA.
²¹ Department of Pediatric Neurology, University of Arizona College of Medicine, Phoenix, Arizona, USA.
²² Department of Experimental and Clinical Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
²³ Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
²⁴ Department of Cardiology, CHU Sainte-Justine, Montreal, Quebec, Canada.
²⁵ Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
²⁶ Division of Biochemical Diseases, BC Children's Hospital, Vancouver, British Columbia, Canada.
²⁷ Department of Neurology, Seattle Children's Hospital/University of Washington, Seattle, Washington, USA.
²⁸ Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.
²⁹ Neurology, Biochemical & Molecular Genetics, Atlanta, Georgia, USA.
³⁰ Department of Medicine, University of Florida College of Medicine, Gainesville, Florida, USA.
³¹ Department of Neurology and Kolling Institute, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
³² Division of Neurology, McMaster University, Hamilton, Ontario, Canada.
³³ Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
³⁴ Department of Pediatrics, Centre for Molecular Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
³⁵ Undiagnosed Diseases Network, National Institutes of Health, Bethesda, Maryland, USA.
³⁶ Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
³⁷ Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.
³⁸ Department of Clinical Neurosciences & MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.

PMID: 29215644
PMCID: PMC7787267
DOI: 10.1038/gim.2017.164

Comment

Response to Newman et al

Sumit Parikh et al. Genet Med. 2017 Dec.

. 2017 Dec;19(12):10.1038/gim.2017.164.

doi: 10.1038/gim.2017.164. Epub 2017 Oct 26.

Authors

Affiliations

¹ Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio, USA.
² Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
³ Division of Genetics, Massachusetts General Hospital, Boston, Massachusetts, USA.
⁴ Division of Child and Adolescent Neurology, University of Texas Medical School at Houston, Houston, Texas, USA.
⁵ Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
⁶ Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
⁷ Neurodevelopmental Genomics Research Group, Murdoch Childrens Research Institute, and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria, Australia.
⁸ Neurodevelopmental Science Center, Children's Hospital Medical Center of Akron, Akron, Ohio, USA.
⁹ Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
¹⁰ Division of Medical Genetics, Department of Pediatrics, Stanford University Lucile Packard Children's Hospital, Palo Alto, California, USA.
¹¹ Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
¹² Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
¹³ Department of Pediatrics, University of California San Diego and Rady Childrens Hospital, San Diego, California, USA.
¹⁴ Department of Pediatrics, University of Arkansas Medical Sciences, Little Rock, Arkansas, USA.
¹⁵ Division of Genetics, Department of Pediatrics, Cooper Medical School at Rowan University, Camden, New Jersey, USA.
¹⁶ Division of Neurology, Levine Children's Hospital, Charlotte, North Carolina, USA.
¹⁷ Departments of Neurosciences and Pediatrics, University of California San Diego, La Jolla, California, USA.
¹⁸ Department of Neurosciences, Rady Children's Hospital, San Diego, California, USA.
¹⁹ Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
²⁰ Genetic Metabolic Center for Education, Salem, Massachusetts, USA.
²¹ Department of Pediatric Neurology, University of Arizona College of Medicine, Phoenix, Arizona, USA.
²² Department of Experimental and Clinical Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
²³ Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
²⁴ Department of Cardiology, CHU Sainte-Justine, Montreal, Quebec, Canada.
²⁵ Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
²⁶ Division of Biochemical Diseases, BC Children's Hospital, Vancouver, British Columbia, Canada.
²⁷ Department of Neurology, Seattle Children's Hospital/University of Washington, Seattle, Washington, USA.
²⁸ Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.
²⁹ Neurology, Biochemical & Molecular Genetics, Atlanta, Georgia, USA.
³⁰ Department of Medicine, University of Florida College of Medicine, Gainesville, Florida, USA.
³¹ Department of Neurology and Kolling Institute, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
³² Division of Neurology, McMaster University, Hamilton, Ontario, Canada.
³³ Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
³⁴ Department of Pediatrics, Centre for Molecular Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
³⁵ Undiagnosed Diseases Network, National Institutes of Health, Bethesda, Maryland, USA.
³⁶ Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
³⁷ Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.
³⁸ Department of Clinical Neurosciences & MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.

PMID: 29215644
PMCID: PMC7787267
DOI: 10.1038/gim.2017.164

No abstract available

PubMed Disclaimer

Conflict of interest statement

DISCLOSURE

The authors declare no conflict of interest.

Comment on

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Parikh S, et al. Genet Med. 2017 Dec;19(12):10.1038/gim.2017.107. doi: 10.1038/gim.2017.107. Epub 2017 Jul 27. Genet Med. 2017. PMID: 28749475 Free PMC article. Review.
Management of ophthalmologic manifestations of mitochondrial diseases.
Newman NJ, Yu-Wai-Man P, Sadun AA, Karanjia R, Carelli V. Newman NJ, et al. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.171. Epub 2017 Oct 26. Genet Med. 2017. PMID: 29215643 No abstract available.

References

1. Newman NJ, Yu-Wai-Man P, Sadun AA,. Karanjia R, Carelli V. Management of ophthalmologic manifestations of mitochondrial diseases. Genet Med; E-pub ahead of print 26 October, 2017. - PubMed
1. Parikh S, Goldstein A, Karaa A, et al. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society [online only]. Genet Med 2017. doi:10.1038/gim.2017.107. - DOI - PMC - PubMed

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Response to Newman et al

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Response to Newman et al

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