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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Servián-Morilla, E; Cabrera-Serrano, M; Johnson, K; Pandey, A; Ito, A; Rivas, E; Chamova, T; Muelas, N; Mongini, T; Nafissi, S; Claeys, K G; Grewal, R P; Takeuchi, M; Hao, H; Bönnemann, C; Lopes Abath Neto, O; Medne, L; Brandsema, J; Töpf, A; Taneva, A; Vilchez, J J; Tournev, I; Haltiwanger, R S; Takeuchi, H; Jafar-Nejad, H; Straub, V; Paradas, Carmen.
Affiliation
  • Servián-Morilla E; Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.
  • Cabrera-Serrano M; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
  • Johnson K; Neuromuscular Disorders Unit, Department of Neurology, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.
  • Pandey A; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
  • Ito A; 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.
  • Rivas E; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.
  • Chamova T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Muelas N; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, 30602, USA.
  • Mongini T; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
  • Nafissi S; Department of Neuropathology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla (IBiS), Sevilla, Spain.
  • Claeys KG; Department of Neurology, Clinic of Nervous Diseases, University Hospital "Alexandrovska", Medical University Sofia, Sofia, Bulgaria.
  • Grewal RP; 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.
  • Takeuchi M; Neuromuscular Unit, Department of Neuroscience "Rita Levi Montalcini", University of Torino, Torino, Italy.
  • Hao H; Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • Bönnemann C; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
  • Lopes Abath Neto O; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium.
  • Medne L; Department of Neuroscience, School of Health and Medical Sciences, Seton Hall University/Saint Francis Medical Center, Trenton, NJ, USA.
  • Brandsema J; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, 30602, USA.
  • Töpf A; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, 30602, USA.
  • Taneva A; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
  • Vilchez JJ; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
  • Tournev I; Divisions of Neurology and Human Genetics of Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, USA.
  • Haltiwanger RS; Divisions of Neurology and Human Genetics of Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, USA.
  • Takeuchi H; 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.
  • Jafar-Nejad H; Department of Neurology, Clinic of Nervous Diseases, University Hospital "Alexandrovska", Medical University Sofia, Sofia, Bulgaria.
  • Straub V; 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.
  • Paradas C; Department of Neurology, Clinic of Nervous Diseases, University Hospital "Alexandrovska", Medical University Sofia, Sofia, Bulgaria.
Acta Neuropathol ; 139(3): 565-582, 2020 03.
Article de En | MEDLINE | ID: mdl-31897643
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Muscles squelettiques / Dystrophies musculaires des ceintures / Dystroglycanes / Glucosyltransferases Limites: Animals / Female / Humans / Male Langue: En Journal: Acta Neuropathol Année: 2020 Type de document: Article Pays d'affiliation: Espagne Pays de publication: Allemagne
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Muscles squelettiques / Dystrophies musculaires des ceintures / Dystroglycanes / Glucosyltransferases Limites: Animals / Female / Humans / Male Langue: En Journal: Acta Neuropathol Année: 2020 Type de document: Article Pays d'affiliation: Espagne Pays de publication: Allemagne