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Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

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Title: Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Authors: Peng Y; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA., Shinde DN; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA., Valencia CA; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA., Mo JS; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA., Rosenfeld J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Truitt Cho M; GeneDx Inc., Gaithersburg, MD 20877, USA., Chamberlin A; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA., Li Z; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA., Liu J; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA., Gui B; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA., Brockhage R; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA., Basinger A; Department of Metabolic Genetics, Cook Children's Physician Network, Fort Worth, TX 76104, USA., Alvarez-Leon B; Department of Metabolic Genetics, Cook Children's Physician Network, Fort Worth, TX 76104, USA., Heydemann P; Section of Pediatric Neurology, Rush University Medical Center, Chicago, IL 60612, USA., Magoulas PL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Gril S; Neuropediatric Department, Raul Carrea Institute for Neurological Research -FLENI, Montañeses 2325 (C1428AQK), Argentina., Chong SC; Center of Inborn Errors of Metabolism, Department of Paediatrics, The Chinese University of Hong Kong, Hong Kong, China., Bower M; Fairview Molecular Diagnostics Laboratory Neurology Clinic, University of Minnesota Medical Center, Minneapolis, MN 55454, USA., Monaghan KG; GeneDx Inc., Gaithersburg, MD 20877, USA., Willaert R; GeneDx Inc., Gaithersburg, MD 20877, USA., Plona MR; Pediatric Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA., Dineen R; Pediatric Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA., Milan F; GeneDx Inc., Gaithersburg, MD 20877, USA., Hoganson G; Pediatric Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA., Powis Z; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA., Helbig KL; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA., Keller-Ramey J; GeneDx Inc., Gaithersburg, MD 20877, USA., Harris B; The Jackson Laboratory, Bar Harbor, ME 04609, USA., Anderson LC; The Jackson Laboratory, Bar Harbor, ME 04609, USA., Green T; The Jackson Laboratory, Bar Harbor, ME 04609, USA., Sukoff Rizzo SJ; The Jackson Laboratory, Bar Harbor, ME 04609, USA., Kaylor J; Arkansas Children's Hospital, Little Rock, AR 72202, USA., Chen J; University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA., Guan MX; Institute of Genetics, Zhejiang University, Hangzhou, China., Sellars E; Arkansas Children's Hospital, Little Rock, AR 72202, USA., Sparagana SP; Pediatric Neurology, Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA., Gibson JB; Dell Children's Medical Center, Austin, TX 78723, USA., Reinholdt LG; The Jackson Laboratory, Bar Harbor, ME 04609, USA., Tang S; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA., Huang T; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA.
Source: Human molecular genetics [Hum Mol Genet] 2017 Dec 15; Vol. 26 (24), pp. 4937-4950.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
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  Data: <searchLink fieldCode="AU" term="%22Peng+Y%22">Peng Y</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA.<br /><searchLink fieldCode="AU" term="%22Shinde+DN%22">Shinde DN</searchLink>; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.<br /><searchLink fieldCode="AU" term="%22Valencia+CA%22">Valencia CA</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA.<br /><searchLink fieldCode="AU" term="%22Mo+JS%22">Mo JS</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+J%22">Rosenfeld J</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Truitt+Cho+M%22">Truitt Cho M</searchLink>; GeneDx Inc., Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Chamberlin+A%22">Chamberlin A</searchLink>; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.<br /><searchLink fieldCode="AU" term="%22Li+Z%22">Li Z</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA.<br /><searchLink fieldCode="AU" term="%22Liu+J%22">Liu J</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA.<br /><searchLink fieldCode="AU" term="%22Gui+B%22">Gui B</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA.<br /><searchLink fieldCode="AU" term="%22Brockhage+R%22">Brockhage R</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA.<br /><searchLink fieldCode="AU" term="%22Basinger+A%22">Basinger A</searchLink>; Department of Metabolic Genetics, Cook Children's Physician Network, Fort Worth, TX 76104, USA.<br /><searchLink fieldCode="AU" term="%22Alvarez-Leon+B%22">Alvarez-Leon B</searchLink>; Department of Metabolic Genetics, Cook Children's Physician Network, Fort Worth, TX 76104, USA.<br /><searchLink fieldCode="AU" term="%22Heydemann+P%22">Heydemann P</searchLink>; Section of Pediatric Neurology, Rush University Medical Center, Chicago, IL 60612, USA.<br /><searchLink fieldCode="AU" term="%22Magoulas+PL%22">Magoulas PL</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Lewis+AM%22">Lewis AM</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Scaglia+F%22">Scaglia F</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Gril+S%22">Gril S</searchLink>; Neuropediatric Department, Raul Carrea Institute for Neurological Research -FLENI, Montañeses 2325 (C1428AQK), Argentina.<br /><searchLink fieldCode="AU" term="%22Chong+SC%22">Chong SC</searchLink>; Center of Inborn Errors of Metabolism, Department of Paediatrics, The Chinese University of Hong Kong, Hong Kong, China.<br /><searchLink fieldCode="AU" term="%22Bower+M%22">Bower M</searchLink>; Fairview Molecular Diagnostics Laboratory Neurology Clinic, University of Minnesota Medical Center, Minneapolis, MN 55454, USA.<br /><searchLink fieldCode="AU" term="%22Monaghan+KG%22">Monaghan KG</searchLink>; GeneDx Inc., Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Willaert+R%22">Willaert R</searchLink>; GeneDx Inc., Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Plona+MR%22">Plona MR</searchLink>; Pediatric Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA.<br /><searchLink fieldCode="AU" term="%22Dineen+R%22">Dineen R</searchLink>; Pediatric Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA.<br /><searchLink fieldCode="AU" term="%22Milan+F%22">Milan F</searchLink>; GeneDx Inc., Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Hoganson+G%22">Hoganson G</searchLink>; Pediatric Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA.<br /><searchLink fieldCode="AU" term="%22Powis+Z%22">Powis Z</searchLink>; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.<br /><searchLink fieldCode="AU" term="%22Helbig+KL%22">Helbig KL</searchLink>; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.<br /><searchLink fieldCode="AU" term="%22Keller-Ramey+J%22">Keller-Ramey J</searchLink>; GeneDx Inc., Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Harris+B%22">Harris B</searchLink>; The Jackson Laboratory, Bar Harbor, ME 04609, USA.<br /><searchLink fieldCode="AU" term="%22Anderson+LC%22">Anderson LC</searchLink>; The Jackson Laboratory, Bar Harbor, ME 04609, USA.<br /><searchLink fieldCode="AU" term="%22Green+T%22">Green T</searchLink>; The Jackson Laboratory, Bar Harbor, ME 04609, USA.<br /><searchLink fieldCode="AU" term="%22Sukoff+Rizzo+SJ%22">Sukoff Rizzo SJ</searchLink>; The Jackson Laboratory, Bar Harbor, ME 04609, USA.<br /><searchLink fieldCode="AU" term="%22Kaylor+J%22">Kaylor J</searchLink>; Arkansas Children's Hospital, Little Rock, AR 72202, USA.<br /><searchLink fieldCode="AU" term="%22Chen+J%22">Chen J</searchLink>; University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.<br /><searchLink fieldCode="AU" term="%22Guan+MX%22">Guan MX</searchLink>; Institute of Genetics, Zhejiang University, Hangzhou, China.<br /><searchLink fieldCode="AU" term="%22Sellars+E%22">Sellars E</searchLink>; Arkansas Children's Hospital, Little Rock, AR 72202, USA.<br /><searchLink fieldCode="AU" term="%22Sparagana+SP%22">Sparagana SP</searchLink>; Pediatric Neurology, Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA.<br /><searchLink fieldCode="AU" term="%22Gibson+JB%22">Gibson JB</searchLink>; Dell Children's Medical Center, Austin, TX 78723, USA.<br /><searchLink fieldCode="AU" term="%22Reinholdt+LG%22">Reinholdt LG</searchLink>; The Jackson Laboratory, Bar Harbor, ME 04609, USA.<br /><searchLink fieldCode="AU" term="%22Tang+S%22">Tang S</searchLink>; Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.<br /><searchLink fieldCode="AU" term="%22Huang+T%22">Huang T</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH 45229, USA.
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