Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia
- Author
- ROMERO, Norma Beatriz1 ; MONNIER, Nicole2 ; VIOLLET, Louis3 ; CORTEY, Anne4 ; CHEVALLAY, Martine1 ; LEROY, Jean Paul5 ; LUNARDI, Joël2 6 ; FARDEAU, Michel1
[1] Inserm U 582 and Institut de Myologie, CHU Pitié-Salpêtrière, Paris, France
[2] Laboratoire de Biochimie de l'ADN, CHU Grenoble, France
[3] Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, France
[4] CHU de Nancy, Nancy, France
[5] Service d'Anatomie Pathologique, CHU Brest, France
[6] Laboratoire BECP/DBMS, EA 2943 UJF-CEA, Grenoble, France - Source
Brain. 2003, Vol 126, pp 2341-2349, 9 p ; 11 ; ref : 29 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- RYRI mutations central core disease fetal akinesia
- Keyword (fr)
- Akinésie Anatomopathologie Caractère dominant Caractère récessif Enfant Etude familiale Exploration Foetus Liaison génétique Mutation Myopathie central core Récepteur ryanodine RY1 Encéphale pathologie Génétique Homme Maladie congénitale Muscle strié pathologie Système nerveux central pathologie Système nerveux pathologie Trouble moteur Trouble neurologique
- Keyword (en)
- Akinesia Anatomic pathology Dominant character Recessive character Child Family study Exploration Fetus Genetic linkage Mutation Central core myopathy Ryanodine receptor RY1 Cerebral disorder Genetics Human Congenital disease Striated muscle disease Central nervous system disease Nervous system diseases Motor system disorder Neurological disorder
- Keyword (es)
- Aquinesia Anatomía patológica Carácter dominante Carácter recesivo Niño Estudio familiar Exploración Feto Ligamiento genético Mutación Miopatía central Receptor ryanodina RY1 Encéfalo patología Genética Hombre Enfermedad congénita Músculo estriado patología Sistema nervosio central patología Sistema nervioso patología Trastorno motor Trastorno neurológico
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 15209706
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
10.1093/brain/awg244 
https://dx.doi.org/10.1093/brain/awg244
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