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Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

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作者单位: Department of Neurology, Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany. [1] Clinic of Neurology, University Hospital Alexandrovska, Sofia, Bulgaria. [2] Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. [3] Institute of Neuropathology, RWTH Aachen University, Aachen, Germany. [4] Institute of Human Genetics, RWTH Aachen University, Aachen, Germany. [5] Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden. [6] Neuromuscular Center, Sahlgrenska University Hospital, Gothenburg, Sweden. [7] Neurosciences Group, Department of Clinical Neurology, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK. [8] Unitat de Patologia Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Deu, Esplugues, Barcelona, Spain. [9] Servicio de Neurología, Hospital Universitario y Politécnico La Fe and CIBER de Enfermedades Neurodegenerativas (CIBERNED), Valencia, Spain. [10] Division of Neuropaediatrics and Muscle Disorders, University Medical Center, Freiburg, Germany. [11] Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran. [12] Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran. [13] Neuropathology Lab, Toos Hospital, Tehran, Iran. [14] Departments of Neurosciences, Psychiatry and Anaesthesiology, A.O.U. "G. Martino", Messina, Italy. [15] Department of Neurology, Geriatric Medicine and Palliative Care, Hanse-Klinikum, Stralsund, Germany. [16] Department of Paediatrics I, University Hospital Essen, Essen, Germany. [17] Institut de Myologie, Unité Mixte de Recherche UPMC-INSERM-CNRS-AIM UM 76, U974, UMR 7215, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. [18] Institute of Human Genetics, Ludwig Maximilians University, Munich, Germany. [19] Azad University Medical Branch, Tehran, Iran. [20] Hôpital Marin, Hendaye, France. [21] Department of Paediatrics, Mater Dei Hospital, Tal-Qroqq, Msida, Malta. [22] The Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK. [23] MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK. [24] CMS NCG Group, Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK. [25] Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. hanns.lochmuller@ncl.ac.uk. [26]
DOI 10.1007/s00415-011-6262-z
PMID 21975507
发布时间 2022-01-29
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Journal of neurology

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