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Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
McMillan, Hugh J; Telegrafi, Aida; Singleton, Amanda; Cho, Megan T; Lelli, Daniel; Lynn, Francis C; Griffin, Julie; Asamoah, Alexander; Rinne, Tuula; Erasmus, Corrie E; Koolen, David A; Haaxma, Charlotte A; Keren, Boris; Doummar, Diane; Mignot, Cyril; Thompson, Islay; Velsher, Lea; Dehghani, Mohammadreza; Vahidi Mehrjardi, Mohammad Yahya; Maroofian, Reza; Tchan, Michel; Simons, Cas; Christodoulou, John; Martín-Hernández, Elena; Guillen Sacoto, Maria J; Henderson, Lindsay B; McLaughlin, Heather; Molday, Laurie L; Molday, Robert S; Yoon, Grace.
Afiliación
  • McMillan HJ; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Telegrafi A; GeneDx, Gaithersburg, MD, USA.
  • Singleton A; GeneDx, Gaithersburg, MD, USA.
  • Cho MT; GeneDx, Gaithersburg, MD, USA.
  • Lelli D; Division of Neurology, Department of Medicine, The Ottawa Hospital, University of Ottawa, Ottawa, ON, Canada.
  • Lynn FC; Diabetes Research Program, Child and Family Research Institute, Vancouver, BC, Canada.
  • Griffin J; Department of Surgery and Department of Cellular and Physiological Sciences, University of British Columbia, Vancouver, BC, Canada.
  • Asamoah A; Weisskopf Child Evaluation Center, Department of Pediatrics, School of Medicine, University of Louisville, Louisville, KY, USA.
  • Rinne T; Weisskopf Child Evaluation Center, Department of Pediatrics, School of Medicine, University of Louisville, Louisville, KY, USA.
  • Erasmus CE; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Koolen DA; Department of Neurology, Donders Center of Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Haaxma CA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Keren B; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Doummar D; Assistance Publique Hôpitaux de Paris, Département de Génétique, Groupe Hospitalier, Pitié-Salpêtrière, Paris, France.
  • Mignot C; Service de Neuropédiatrie, Hôpital Armand-Trousseau, Paris, France.
  • Thompson I; Assistance Publique Hôpitaux de Paris, Département de Génétique, Groupe Hospitalier, Pitié-Salpêtrière, Paris, France.
  • Velsher L; Centre de Référence Déficiences Intellectuelles de Causes Rares, GH Pitié Salpêtrière, Paris, France.
  • Dehghani M; Groupe de Recherche Clinique UPMC Déficience Intellectuelle de Causes Rares et Autisme GH Pitié-Salpêtrière, Paris, France.
  • Vahidi Mehrjardi MY; Genetics Program, North York General Hospital, Toronto, ON, Canada.
  • Maroofian R; Genetics Program, North York General Hospital, Toronto, ON, Canada.
  • Tchan M; Medical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Simons C; Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Christodoulou J; Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Martín-Hernández E; Diabetes Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Guillen Sacoto MJ; Human Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's University of London, London, UK.
  • Henderson LB; Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, Australia.
  • McLaughlin H; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.
  • Molday LL; Institute for Molecular Bioscience, University of Queensland, St Lucia, QLD, Australia.
  • Molday RS; Neurodevelopmental Genomics Research Group, Murdoch Childrens Research Institute and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, VIC, Australia.
  • Yoon G; Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias, Servicio de Pediatría Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, Madrid, Spain.
Orphanet J Rare Dis ; 13(1): 86, 2018 05 31.
Article en En | MEDLINE | ID: mdl-30012219
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atrofia Óptica / Adenosina Trifosfatasas / Proteínas de Transferencia de Fosfolípidos / Disfunción Cognitiva / Hipotonía Muscular / Mutación Tipo de estudio: Etiology_studies / Observational_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2018 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atrofia Óptica / Adenosina Trifosfatasas / Proteínas de Transferencia de Fosfolípidos / Disfunción Cognitiva / Hipotonía Muscular / Mutación Tipo de estudio: Etiology_studies / Observational_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2018 Tipo del documento: Article País de afiliación: Canadá