NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

Virginia Kimonis; Rehab al Dubaisi; Andrew E Maclean; Kathy Hall; Lan Weiss; Alexander E Stover; Philip H Schwartz; Bethany Berg; Cheng Cheng; Sumit Parikh; Blair R Conner; Sitao Wu; Anton N Hasso; Daryl A Scott; Mary Kay Koenig; Rachid Karam; Sha Tang; Moyra Smith; Elizabeth Chao; Janneke Balk; Eli Hatchwell; Peggy S Eis

doi:10.1136/jmedgenet-2020-106846

Article info

Neurogenetics

Original research

NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

Authors

Virginia Kimonis Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA PubMed articles Google scholar articles
Rehab al Dubaisi Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA PubMed articles Google scholar articles
Andrew E Maclean Department of Biological Chemistry, John Innes Centre, Norwich, Norfolk, UK Wellcome Centre for Integrative Parasitology, University of Glasgow, Glasgow, Glasgow, UK PubMed articles Google scholar articles
Kathy Hall Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA PubMed articles Google scholar articles
Lan Weiss Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA PubMed articles Google scholar articles
Alexander E Stover CHOC National Human Neural Stem Cell Resource, Children's Hospital of Orange County Research Institute, Orange, California, USA PubMed articles Google scholar articles
Philip H Schwartz CHOC National Human Neural Stem Cell Resource, Children's Hospital of Orange County Research Institute, Orange, California, USA PubMed articles Google scholar articles
Bethany Berg Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA PubMed articles Google scholar articles
Cheng Cheng Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA PubMed articles Google scholar articles
Sumit Parikh Center for Pediatric Neurology, Cleveland Clinic, Cleveland, Ohio, USA PubMed articles Google scholar articles
Blair R Conner Ambry Genetics Corp, Aliso Viejo, California, USA PubMed articles Google scholar articles
Sitao Wu Ambry Genetics Corp, Aliso Viejo, California, USA PubMed articles Google scholar articles
Anton N Hasso Radiological Sciences, University of California Irvine School of Medicine, Irvine, California, USA PubMed articles Google scholar articles
Daryl A Scott Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA PubMed articles Google scholar articles
Mary Kay Koenig Department of Pediatrics, University of Texas McGovern Medical School, Houston, Texas, USA PubMed articles Google scholar articles
Rachid Karam Ambry Genetics Corp, Aliso Viejo, California, USA PubMed articles Google scholar articles
Sha Tang Ambry Genetics Corp, Aliso Viejo, California, USA PubMed articles Google scholar articles
Moyra Smith Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA PubMed articles Google scholar articles
Elizabeth Chao Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, California, USA Ambry Genetics Corp, Aliso Viejo, California, USA PubMed articles Google scholar articles
Janneke Balk Department of Biological Chemistry, John Innes Centre, Norwich, Norfolk, UK PubMed articles Google scholar articles
Eli Hatchwell Population Bio UK, Inc, Begbroke, Oxfordshire, UK PubMed articles Google scholar articles
Peggy S Eis Population Bio, Inc, New York, New York, USA PubMed articles Google scholar articles

Correspondence to Dr Virginia Kimonis, Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Irvine, CA 92868, USA; vkimonis{at}uci.edu; Dr Peggy S Eis, Population Bio, Inc, New York, NY, USA; pegeis{at}populationbio.com

View Full Text

Citation

Kimonis V, al Dubaisi R, Maclean AE, et al

NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

Journal of Medical Genetics 2021;58:314-325.

Publication history

Received January 9, 2020
Revised April 2, 2020
Accepted April 22, 2020
First published June 9, 2020.

Online issue publication

April 27, 2021

Article Versions

Previous version (27 April 2021).
You are viewing the most recent version of this article.

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Main menu

Authors

Citation

Publication history

Article Versions

Request permissions

Copyright information

Log in using your username and password

Main menu

Log in using your username and password

You are here

Authors

Citation

Publication history

Article Versions

Request permissions

Copyright information

Read the full text or download the PDF:

Log in using your username and password