Estudos genéticos na Hipertermia Maligna e Miopatia de Central Core
DOI:
https://doi.org/10.34024/rnc.2005.v13.8815Palavras-chave:
suplementoResumo
.
Downloads
Métricas
Referências
Davis MR, Haan E, Jungbluth H, et al. Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscul Disord. 2003, 13(2):151-157.
Kossugue PM, Muniz VP, Pavanello RCM, et al. Screening for mutations in the C-terminal region of RYR1 gene identify high frequency of autosomal recessive form of Central Core Disease (CCD) in Brazil. 10th International Congress of the World Muscle Society, Iguassu Falls, Brazil, September 28 to October 1, 2005.
Muniz VP, Silva HCA, Tsanaclis AMC, Vainzof M. Screening for mutations in the RYR1 gene in families with malignant hyperthermia. J Molec Neurosc 2003; 21(1):35-42.
Phillips MS, Fuji J, Khanna VK, et al. The RYR1 gene. The structural organization of the human skeletal muscle ryanodine repector (RYR1)gene. Genomics 15. 1996, 34 (1):24-41.
Sambuughin N, Holley H, Muldoon S, et al. Screening of the Entire Ryanodine Receptor Type 1 Coding Region for Sequence Variants Associated with Malignant Hyperthermia Susceptibility in the North American Population. Anesthesiol 2005; 102(3):515-521.
Downloads
Publicado
Como Citar
Edição
Seção
Publicado: 2005-09-30