MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
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| Title: | MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase. |
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| 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 |
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| ISSN: | 1460-2156 |
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| DOI: | 10.1093/brain/awab275 |
