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First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood.
Pizzamiglio, Chiara; Lahiri, Nayana; Nirmalananthan, Niranjanan; Sood, Bhrigu; Somalanka, Subash; Ostrowski, Philip; Phadke, Rahul; O'Donovan, Dominic Gerard; Muntoni, Francesco; Quinlivan, Rosaline.
Afiliação
  • Pizzamiglio C; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom. Electronic address: c.pizzamiglio@ucl.ac.uk.
  • Lahiri N; Clinical Genetics Department, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.
  • Nirmalananthan N; Departments of Neurology and Neuroradiology, Atkinson Morley Regional Neurosciences Centre, St George's Hospital, London, United Kingdom.
  • Sood B; South West Thames Renal and Transplantation Unit and South West Thames Institute for Renal Research, Saint Helier Hospital, Carshalton, Surrey, United Kingdom.
  • Somalanka S; South West Thames Renal and Transplantation Unit and South West Thames Institute for Renal Research, Saint Helier Hospital, Carshalton, Surrey, United Kingdom.
  • Ostrowski P; South West Thames Regional Genetics Service, St George's University NHS Foundation Trust, London, United Kingdom.
  • Phadke R; Division of Neuropathology, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital for Children, United Kingdom; Division of Neuropathology, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
  • O'Donovan DG; Neuropathology, Department of Histopathology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
  • Muntoni F; Paediatric Neurology, Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, United Kingdom.
  • Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
Neuromuscul Disord ; 30(7): 566-571, 2020 07.
Article em En | MEDLINE | ID: mdl-32522502

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rabdomiólise / Fosfatidato Fosfatase Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Child / Female / Humans Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rabdomiólise / Fosfatidato Fosfatase Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Adult / Child / Female / Humans Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2020 Tipo de documento: Article