View in EDS HTML Full Text PDF Full Text

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.

Saved in:
Bibliographic Details
Title: MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.
Authors: Lopes Abath Neto O; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Department of Pathology, Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Medne L; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Rodríguez-García ME; Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Guadagnin E; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Brandsema JF; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Glanzman AM; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Tennekoon GI; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Santi M; Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Berger JH; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Megeney LA; Ottawa Hospital Research Institute, Ottawa ON, Canada., Komaki H; National Center of Neurology and Psychiatry, Tokyo, Japan., Inoue M; National Center of Neurology and Psychiatry, Tokyo, Japan., Cotrina-Vinagre FJ; Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain., Hernández-Lain A; Servicio de Anatomía Patológica (Neuropatología), Hospital 12 de Octubre, Madrid, Spain., Martin-Hernández E; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Unidad Pediátrica de Enfermedades Raras, Enfermedades Mitocondriales y Metabólicas Hereditarias, Hospital 12 de Octubre, Madrid, Spain., Williams L; Division of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Borell S; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany., Schorling D; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany., Lin K; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kolokotronis K; Institute of Human Genetics, Biocenter, Julius-Maximilians-University Würzburg, Würzburg, Germany., Lichter-Konecki U; Division of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Department of Neuropediatrics, University Hospital Bonn, Faculty of Medicine, Bonn, Germany., Nishino I; National Center of Neurology and Psychiatry, Tokyo, Japan., Banwell B; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Martínez-Azorín F; Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Burgon PG; Department of Chemistry and Earth Science, College of Arts and Sciences, Qatar University, Qatar., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Source: Brain : a journal of neurology [Brain] 2021 Oct 22; Vol. 144 (9), pp. 2722-2731.
Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 34581780
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Lopes+Abath+Neto+O%22">Lopes Abath Neto O</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Department of Pathology, Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Medne+L%22">Medne L</searchLink>; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Donkervoort+S%22">Donkervoort S</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Rodríguez-García+ME%22">Rodríguez-García ME</searchLink>; Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Bolduc+V%22">Bolduc V</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Hu+Y%22">Hu Y</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Guadagnin+E%22">Guadagnin E</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Foley+AR%22">Foley AR</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Brandsema+JF%22">Brandsema JF</searchLink>; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Glanzman+AM%22">Glanzman AM</searchLink>; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Tennekoon+GI%22">Tennekoon GI</searchLink>; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Santi+M%22">Santi M</searchLink>; Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Berger+JH%22">Berger JH</searchLink>; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Megeney+LA%22">Megeney LA</searchLink>; Ottawa Hospital Research Institute, Ottawa ON, Canada.<br /><searchLink fieldCode="AU" term="%22Komaki+H%22">Komaki H</searchLink>; National Center of Neurology and Psychiatry, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Inoue+M%22">Inoue M</searchLink>; National Center of Neurology and Psychiatry, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Cotrina-Vinagre+FJ%22">Cotrina-Vinagre FJ</searchLink>; Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Hernández-Lain+A%22">Hernández-Lain A</searchLink>; Servicio de Anatomía Patológica (Neuropatología), Hospital 12 de Octubre, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Martin-Hernández+E%22">Martin-Hernández E</searchLink>; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Unidad Pediátrica de Enfermedades Raras, Enfermedades Mitocondriales y Metabólicas Hereditarias, Hospital 12 de Octubre, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Williams+L%22">Williams L</searchLink>; Division of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Borell+S%22">Borell S</searchLink>; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Schorling+D%22">Schorling D</searchLink>; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Lin+K%22">Lin K</searchLink>; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Kolokotronis+K%22">Kolokotronis K</searchLink>; Institute of Human Genetics, Biocenter, Julius-Maximilians-University Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Lichter-Konecki+U%22">Lichter-Konecki U</searchLink>; Division of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Kirschner+J%22">Kirschner J</searchLink>; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.; Department of Neuropediatrics, University Hospital Bonn, Faculty of Medicine, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Nishino+I%22">Nishino I</searchLink>; National Center of Neurology and Psychiatry, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Banwell+B%22">Banwell B</searchLink>; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Martínez-Azorín+F%22">Martínez-Azorín F</searchLink>; Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Burgon+PG%22">Burgon PG</searchLink>; Department of Chemistry and Earth Science, College of Arts and Sciences, Qatar University, Qatar.<br /><searchLink fieldCode="AU" term="%22Bönnemann+CG%22">Bönnemann CG</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220372537%22">Brain : a journal of neurology</searchLink> [Brain] 2021 Oct 22; Vol. 144 (9), pp. 2722-2731.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0372537 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2156 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200068950%22">00068950 </searchLink><i>NLM ISO Abbreviation: </i>Brain <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34581780
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1093/brain/awab275
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 2722
    Titles:
      – TitleFull: MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Lopes Abath Neto O
      – PersonEntity:
          Name:
            NameFull: Medne L
      – PersonEntity:
          Name:
            NameFull: Donkervoort S
      – PersonEntity:
          Name:
            NameFull: Rodríguez-García ME
      – PersonEntity:
          Name:
            NameFull: Bolduc V
      – PersonEntity:
          Name:
            NameFull: Hu Y
      – PersonEntity:
          Name:
            NameFull: Guadagnin E
      – PersonEntity:
          Name:
            NameFull: Foley AR
      – PersonEntity:
          Name:
            NameFull: Brandsema JF
      – PersonEntity:
          Name:
            NameFull: Glanzman AM
      – PersonEntity:
          Name:
            NameFull: Tennekoon GI
      – PersonEntity:
          Name:
            NameFull: Santi M
      – PersonEntity:
          Name:
            NameFull: Berger JH
      – PersonEntity:
          Name:
            NameFull: Megeney LA
      – PersonEntity:
          Name:
            NameFull: Komaki H
      – PersonEntity:
          Name:
            NameFull: Inoue M
      – PersonEntity:
          Name:
            NameFull: Cotrina-Vinagre FJ
      – PersonEntity:
          Name:
            NameFull: Hernández-Lain A
      – PersonEntity:
          Name:
            NameFull: Martin-Hernández E
      – PersonEntity:
          Name:
            NameFull: Williams L
      – PersonEntity:
          Name:
            NameFull: Borell S
      – PersonEntity:
          Name:
            NameFull: Schorling D
      – PersonEntity:
          Name:
            NameFull: Lin K
      – PersonEntity:
          Name:
            NameFull: Kolokotronis K
      – PersonEntity:
          Name:
            NameFull: Lichter-Konecki U
      – PersonEntity:
          Name:
            NameFull: Kirschner J
      – PersonEntity:
          Name:
            NameFull: Nishino I
      – PersonEntity:
          Name:
            NameFull: Banwell B
      – PersonEntity:
          Name:
            NameFull: Martínez-Azorín F
      – PersonEntity:
          Name:
            NameFull: Burgon PG
      – PersonEntity:
          Name:
            NameFull: Bönnemann CG
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 22
              M: 10
              Text: 2021 Oct 22
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-electronic
              Value: 1460-2156
          Numbering:
            – Type: volume
              Value: 144
            – Type: issue
              Value: 9
          Titles:
            – TitleFull: Brain : a journal of neurology
              Type: main
ResultId 1