Screening for mutations in the RYR1 gene in families with malignant hyperthermia

Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic predisposition associated with a susceptibility to volatile anesthetics and depolarizing muscle relaxants that lead to a fulminant anesthetic crisis with hyperthermia, skeletal muscle rigidity, respiratory and metabolic acidosis, an...

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Veröffentlicht in:	Journal of molecular neuroscience 2003-01, Vol.21 (1), p.35-42
Hauptverfasser:	Muniz, Viviane P, Silva, Helga C A, Tsanaclis, Ana Maria C, Vainzof, Mariz
Format:	Artikel
Sprache:	eng
Schlagworte:	Anesthesia Calcium - metabolism Calcium Channels - genetics Calcium Signaling - genetics Chromosome Mapping Chromosomes, Human, Pair 19 - genetics DNA Mutational Analysis Female Genetic Markers - genetics Genetic Predisposition to Disease - genetics Genetic Testing Haplotypes Haplotypes - genetics Homeostasis - genetics Humans Male Malignant Hyperthermia - genetics Malignant Hyperthermia - metabolism Malignant Hyperthermia - physiopathology Medical research Muscle Contraction - genetics Muscle, Skeletal - metabolism Muscle, Skeletal - pathology Muscle, Skeletal - physiopathology Mutation Mutation - genetics Pedigree Phenotype Ryanodine Receptor Calcium Release Channel - genetics
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