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Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Ravenscroft, Gianina; Zaharieva, Irina T; Bortolotti, Carlo A; Lambrughi, Matteo; Pignataro, Marcello; Borsari, Marco; Sewry, Caroline A; Phadke, Rahul; Haliloglu, Goknur; Ong, Royston; Goullée, Hayley; Whyte, Tamieka; Consortium, Uk K; Manzur, Adnan; Talim, Beril; Kaya, Ulkuhan; Osborn, Daniel P S; Forrest, Alistair R R; Laing, Nigel G; Muntoni, Francesco.
Affiliation
  • Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands WA, Australia.
  • Zaharieva IT; The Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
  • Bortolotti CA; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy.
  • Lambrughi M; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy.
  • Pignataro M; Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia, Modena, Italy.
  • Borsari M; Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia, Modena, Italy.
  • Sewry CA; The Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
  • Phadke R; The Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
  • Haliloglu G; Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia, Modena, Italy.
  • Ong R; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands WA, Australia.
  • Goullée H; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands WA, Australia.
  • Whyte T; The Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
  • Consortium UK; Wellcome Trust Sanger Institute, Cambridge, UK.
  • Manzur A; The Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
  • Talim B; Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, Turkey.
  • Kaya U; Department of Pediatric Neurology, Dr. Sami Ulus Maternity and Children's Research and Training Hospital, Ministry of Health, Ankara, Turkey.
  • Osborn DPS; Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London SW17 0RE, UK.
  • Forrest ARR; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands WA, Australia.
  • Laing NG; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands WA, Australia.
  • Muntoni F; The Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
Hum Mol Genet ; 27(24): 4263-4272, 2018 12 15.
Article in En | MEDLINE | ID: mdl-30215711
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscle, Skeletal / Myosin Light Chains / Myotonia Congenita Type of study: Prognostic_studies Limits: Animals / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Australia Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscle, Skeletal / Myosin Light Chains / Myotonia Congenita Type of study: Prognostic_studies Limits: Animals / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Australia Country of publication: United kingdom