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Neuropathology and Applied Neurobiology, ISSN 0305-1846, 04/2011, Volume 37, Issue 3, pp. 271 - 284
J. A. Bevilacqua, N. Monnier, M. Bitoun, B. Eymard, A. Ferreiro, S. Monges, F. Lubieniecki, A. L. Taratuto, A. Laquerrière, K. G. Claeys, I. Marty, M. Fardeau,... 
RYR1 | recessive mutations | myofibrillar disorganization | nuclear internalization | gene | congenital myopathy | Congenital myopathy | Nuclear internalization | RYR1 gene | Myofibrillar disorganization | Recessive mutations | MULTI-MINICORE DISEASE | CENTRONUCLEAR MYOPATHY | PHOSPHATASE | DYNAMIN-2 | DOMINANT | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | MUSCLE RYANODINE RECEPTOR | SKELETAL-MUSCLE | FIBERS | GENE | CENTRAL CORE DISEASE | Immunohistochemistry | Myopathy, Central Core - metabolism | Microscopy, Electron, Transmission | Humans | Male | Cell Nucleus - ultrastructure | Genes, Recessive | Young Adult | Phenotype | Cell Nucleus - metabolism | Myopathy, Central Core - pathology | Myofibrils - ultrastructure | Ryanodine Receptor Calcium Release Channel - genetics | Pedigree | Adolescent | Polymerase Chain Reaction | Adult | Female | Mutation | Child | Myopathy, Central Core - genetics | Genetic research | Neurosciences | Genetic aspects | Genetic disorders | Children's hospitals | Histochemistry | Neonates | Malignant hyperthermia | Neuropathology | Muscles | Ryanodine receptors | Data processing | Nervous system | Nuclei | Biopsy | Ophthalmoplegia | Transmembrane domains | Sarcomeres | Myopathy | Myopathy, Central Core | Ryanodine Receptor Calcium Release Channel | Myofibrils | Life Sciences | Genetics | Cell Nucleus
Journal Article
Journal Article
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 12/2003, Volume 88, Issue 12, pp. 1051 - 1055
Central core disease (CCD) is a dominantly inherited congenital myopathy allelic to malignant hyperthermia (MH) caused by mutations in the RYR1 gene on... 
HYPERPYREXIA | MALIGNANT HYPERTHERMIA | PEDIATRICS | Humans | Infant | Male | Mutation - genetics | Myopathy, Central Core - pathology | Biopsy | Pedigree | Adolescent | Adult | Female | Muscle, Skeletal - pathology | Child | Myopathy, Central Core - genetics | Development and progression | Muscle diseases | Genetic aspects | Genetic disorders | Diagnosis | Research | Original
Journal Article