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STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Zaharieva, Irina T; Sarkozy, Anna; Munot, Pinki; Manzur, Adnan; O'Grady, Gina; Rendu, John; Malfatti, Eduardo; Amthor, Helge; Servais, Laurent; Urtizberea, J Andoni; Neto, Osorio Abath; Zanoteli, Edmar; Donkervoort, Sandra; Taylor, Juliet; Dixon, Joanne; Poke, Gemma; Foley, A Reghan; Holmes, Chris; Williams, Glyn; Holder, Muriel; Yum, Sabrina; Medne, Livija; Quijano-Roy, Susana; Romero, Norma B; Fauré, Julien; Feng, Lucy; Bastaki, Laila; Davis, Mark R; Phadke, Rahul; Sewry, Caroline A; Bönnemann, Carsten G; Jungbluth, Heinz; Bachmann, Christoph; Treves, Susan; Muntoni, Francesco.
Afiliação
  • Zaharieva IT; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Munot P; Great Ormond Street Hospital, London, UK.
  • Manzur A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
  • O'Grady G; Great Ormond Street Hospital, London, UK.
  • Rendu J; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Malfatti E; Great Ormond Street Hospital, London, UK.
  • Amthor H; Institute of Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Servais L; Discipline of Paediatrics and Child Health Clinical School, University of Sydney, Sydney, New South Wales, Australia.
  • Urtizberea JA; UFR de Médecine, Centre Hospitalier Universitaire Grenoble Alpes, Université Grenoble Alpes, Grenoble, France.
  • Neto OA; Neuromuscular Morphology Unit and Neuromuscular Pathology Reference Center Paris-Est, Center for Research in Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
  • Zanoteli E; UFR des sciences de la santé, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
  • Donkervoort S; Service de Pédiatrie, Centre Hospitalier Universitaire Raymond Poincaré, Garches, France.
  • Taylor J; Institut I-Motion, Hôpital Armand Trousseau, Paris, France.
  • Dixon J; Centre de Compétence Neuromusculaire, FILNEMUS, Hôpital Marin, Hendaye, France.
  • Poke G; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
  • Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, Maryland, USA.
  • Holmes C; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
  • Williams G; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, Maryland, USA.
  • Holder M; Genetic Health Service New Zealand, Auckland, New Zealand.
  • Yum S; Genetic Health Service New Zealand, Christchurch, New Zealand.
  • Medne L; Genetic Health Service New Zealand, Wellington, New Zealand.
  • Quijano-Roy S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, Bethesda, Maryland, USA.
  • Romero NB; Great Ormond Street Hospital, London, UK.
  • Fauré J; Great Ormond Street Hospital, London, UK.
  • Feng L; Department of Clinical Genetics, Guy's Hospital, London, UK.
  • Bastaki L; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Davis MR; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Phadke R; Service de Pédiatrie, Centre Hospitalier Universitaire Raymond Poincaré, Garches, France.
  • Sewry CA; Centre de Référence Neuromusculaire GNMH, FILNEMUS, Université de Versailles, Versailles, France.
  • Bönnemann CG; Neuromuscular Morphology Unit and Neuromuscular Pathology Reference Center Paris-Est, Center for Research in Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.
  • Jungbluth H; UFR de Médecine, Centre Hospitalier Universitaire Grenoble Alpes, Université Grenoble Alpes, Grenoble, France.
  • Bachmann C; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Treves S; Kuwait Medical Genetics Centre, Maternity Hospital, Kuwait City, Kuwait.
  • Muntoni F; Department of Diagnostic Genomics, Pathwest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
Hum Mutat ; 39(12): 1980-1994, 2018 12.
Article em En | MEDLINE | ID: mdl-30168660
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Substituição de Aminoácidos / Proteínas Adaptadoras de Transdução de Sinal / Hipertermia Maligna / Miotonia Congênita Tipo de estudo: Etiology_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Substituição de Aminoácidos / Proteínas Adaptadoras de Transdução de Sinal / Hipertermia Maligna / Miotonia Congênita Tipo de estudo: Etiology_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido