King-Denborough syndrome caused by a novel mutation in the ryanodine receptor gene
- Author
- D'ARCY, C. E1 2 ; BJORKSTEN, A3 4 ; YIU, E. M5 ; BANKIER, A1 4 ; GILLIES, R3 ; MCLEAN, C. A1 2 ; SHIELD, L. K5 ; RYAN, M. M4 5
[1] Faculty of Medicine, Nursing and Health Sciences, Monash University, Australia
[2] Department of Anatomical Pathology, The Alfred Hospital, Australia
[3] Malignant Hyperthermia Diagnostic Unit, Royal Melbourne Hospital, Australia
[4] Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia
[5] Children's Neurosciences Centre, Royal Children's Hospital, Melbourne, Victoria, Australia - Source
Neurology. 2008, Vol 71, Num 10, pp 776-777, 2 p ; ref : 7 ref
- Publisher
- Lippincott Williams & Wilkins, Hagerstown, MD
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Mutation Pathologie du système nerveux Récepteur ryanodine
- Keyword (en)
- Mutation Nervous system diseases Ryanodine receptor
- Keyword (es)
- Mutación Sistema nervioso patología Receptor ryanodina
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20627801
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1212/01.wnl.0000324929.33780.2f 
https://dx.doi.org/10.1212/01.wnl.0000324929.33780.2f
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