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MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.
Lopes Abath Neto, Osorio; Medne, Livija; Donkervoort, Sandra; Rodríguez-García, Maria Elena; Bolduc, Véronique; Hu, Ying; Guadagnin, Eleonora; Foley, A Reghan; Brandsema, John F; Glanzman, Allan M; Tennekoon, Gihan I; Santi, Mariarita; Berger, Justin H; Megeney, Lynn A; Komaki, Hirofumi; Inoue, Michio; Cotrina-Vinagre, Francisco Javier; Hernández-Lain, Aurelio; Martin-Hernández, Elena; Williams, Linford; Borell, Sabine; Schorling, David; Lin, Kimberly; Kolokotronis, Konstantinos; Lichter-Konecki, Uta; Kirschner, Janbernd; Nishino, Ichizo; Banwell, Brenda; Martínez-Azorín, Francisco; Burgon, Patrick G; Bönnemann, Carsten G.
Afiliación
  • 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.
  • Medne L; Department of Pathology, Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
  • Donkervoort S; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Rodríguez-García ME; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Bolduc V; Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain.
  • Hu Y; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • 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; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Glanzman AM; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Tennekoon GI; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Santi M; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Berger JH; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Megeney LA; Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Komaki H; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Inoue M; Ottawa Hospital Research Institute, Ottawa ON, Canada.
  • Cotrina-Vinagre FJ; National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Hernández-Lain A; National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Martin-Hernández E; Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN), Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain.
  • Williams L; Servicio de Anatomía Patológica (Neuropatología), Hospital 12 de Octubre, Madrid, Spain.
  • Borell S; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Schorling D; Unidad Pediátrica de Enfermedades Raras, Enfermedades Mitocondriales y Metabólicas Hereditarias, Hospital 12 de Octubre, Madrid, Spain.
  • Lin K; Division of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
  • Kolokotronis K; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
  • Lichter-Konecki U; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
  • Kirschner J; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Nishino I; Institute of Human Genetics, Biocenter, Julius-Maximilians-University Würzburg, Würzburg, Germany.
  • Banwell B; Division of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
  • Martínez-Azorín F; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
  • Burgon PG; Department of Neuropediatrics, University Hospital Bonn, Faculty of Medicine, Bonn, Germany.
  • Bönnemann CG; National Center of Neurology and Psychiatry, Tokyo, Japan.
Brain ; 144(9): 2722-2731, 2021 10 22.
Article en En | MEDLINE | ID: mdl-34581780
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Rabdomiólisis / Variación Genética / Proteínas Nucleares / Creatina Quinasa / Proteínas Co-Represoras / Mialgia / Enfermedades Musculares Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Rabdomiólisis / Variación Genética / Proteínas Nucleares / Creatina Quinasa / Proteínas Co-Represoras / Mialgia / Enfermedades Musculares Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Brain Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos