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RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction.
Voermans, N C; Snoeck, M; Jungbluth, H.
Affiliation
  • Voermans NC; Department of Neurology, Radboud University Medical Centre, R. Postlaan 4 (route 935), P.O. Box 9101, 6500 Nijmegen (935), The Netherlands. Electronic address: nicol.voermans@radboudumc.nl.
  • Snoeck M; Department of Anaesthesia, Canisius-Wilhelmina Hospital, Nijmegen, The Netherlands.
  • Jungbluth H; Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK; Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, London, UK; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College London, London, UK.
Rev Neurol (Paris) ; 172(10): 546-558, 2016 Oct.
Article in En | MEDLINE | ID: mdl-27663056
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rhabdomyolysis / Muscle, Skeletal / Ryanodine Receptor Calcium Release Channel Type of study: Etiology_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Rev Neurol (Paris) Year: 2016 Type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rhabdomyolysis / Muscle, Skeletal / Ryanodine Receptor Calcium Release Channel Type of study: Etiology_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Rev Neurol (Paris) Year: 2016 Type: Article