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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.

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第一作者: E,Servián-Morilla
第一单位: Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.
作者: E,Servián-Morilla [1] ; M,Cabrera-Serrano [2] ; K,Johnson [1] ; A,Pandey [2] ; A,Ito [3] ; E,Rivas [4] ; T,Chamova [5] ; N,Muelas [6] ; T,Mongini [2] ; S,Nafissi [7] ; K G,Claeys [8] ; R P,Grewal [9] ; M,Takeuchi [10] ; H,Hao [11] ; C,Bönnemann [12] ; O,Lopes Abath Neto [13] ; L,Medne [14] ; J,Brandsema [6] ; A,Töpf [6] ; A,Taneva [15] ; J J,Vilchez [15] ; I,Tournev [16] ; R S,Haltiwanger [16] ; H,Takeuchi [3] ; H,Jafar-Nejad [8] ; V,Straub [9] ; Carmen,Paradas [8]
作者单位: Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain. [1] Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. [2] The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK. [3] Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK. [4] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. [5] Complex Carbohydrate Research Center, University of Georgia, Athens, GA, 30602, USA. [6] Department of Neuropathology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain. [7] Department of Neurology, Clinic of Nervous Diseases, University Hospital "Alexandrovska", Medical University Sofia, Sofia, Bulgaria. [8] Neuromuscular Disorders Unit, Department of Neurology and IIS La Fe, Hospital UiP La Fe, Centro de Investigación Biomédica en Red Sobre Enfermedades Raras (CIBERER), Valencia, Spain. [9] Neuromuscular Unit, Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy. [10] Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. [11] Department of Neurology, University Hospitals Leuven, Leuven, Belgium. [12] Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium. [13] Department of Neuroscience, School of Health and Medical Sciences, Seton Hall University/Saint Francis Medical Center, Trenton, NJ, USA. [14] Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA. [15] Divisions of Neurology and Human Genetics of Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, USA. [16] Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria. [17] Department of Molecular Biochemistry, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan. [18] Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain. cparadas@us.es. [19] Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain. cparadas@us.es. [20]
DOI 10.1007/s00401-019-02117-6
PMID 31897643
发布时间 2021-05-17
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