Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

Filiacions

Guergueltcheva V:

Clinic of Neurology, University Hospital Alexandrovska, Sofia, Bulgaria

Müller JS:

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK

Dusl M:

Department of Neurology, Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany

Senderek J:

Institute of Human Genetics, RWTH Aachen University, Aachen, Germany

Oldfors A:

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden

Lindbergh C:

Neuromuscular Center, Sahlgrenska University Hospital, Gothenburg, Sweden

Maxwell S:

Neurosciences Group, Department of Clinical Neurology, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK

Colomer J:

Unitat de Patologia Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Deu, Esplugues, Barcelona, Spain

Mallebrera CJ:

Unitat de Patologia Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Deu, Esplugues, Barcelona, Spain

Nascimento A:

Unitat de Patologia Neuromuscular, Servei de Neurologia, Hospital Sant Joan de Deu, Esplugues, Barcelona, Spain

Ramírez P:

Servicio de Neurología, Hospital Universitario y Politécnico La Fe and CIBER de Enfermedades Neurodegenerativas (CIBERNED), Valencia, Spain

Muelas N:

Servicio de Neurología, Hospital Universitario y Politécnico La Fe and CIBER de Enfermedades Neurodegenerativas (CIBERNED), Valencia, Spain

Kirschner J:

Division of Neuropaediatrics and Muscle Disorders, University Medical Center, Freiburg, Germany

Nafissi S:

Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran

Kariminejad A:

Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran

Nilipour Y:

Neuropathology Lab, Toos Hospital, Tehran, Iran

Bozorgmehr B:

Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran

Najmabadi H:

Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran

Rodolico C:

Departments of Neurosciences, Psychiatry and Anaesthesiology, A.O.U. "G. Martino", Messina, Italy

Sieb JP:

Department of Neurology, Geriatric Medicine and Palliative Care, Hanse-Klinikum, Stralsund, Germany

Schlotter B:

Department of Neurology, Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany

Schoser B:

Department of Neurology, Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany

Herrmann R:

Department of Paediatrics I, University Hospital Essen, Essen, Germany

Voit T:

Institut de Myologie, Unité Mixte de Recherche UPMC-INSERM-CNRS-AIM UM 76, U974, UMR 7215, Groupe Hospitalier Pitié-Salpêtrière, Paris, France

Steinlein OK:

Institute of Human Genetics, Ludwig Maximilians University, Munich, Germany

Najafi A:

Azad University Medical Branch, Tehran, Iran

Urtizberea A:

Hôpital Marin, Hendaye, France

Soler DM:

Department of Paediatrics, Mater Dei Hospital, Tal-Qroqq, Msida, Malta

Muntoni F:

The Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, UK

Hanna MG:

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK

Chaouch A:

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK

Straub V:

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK

Bushby K:

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK

Palace J:

CMS NCG Group, Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK

Beeson D:

Neurosciences Group, Department of Clinical Neurology, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK

Abicht A:

Department of Neurology, Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany

Lochmüller H:

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.