Screening of the Ryanodine Receptor Gene in 105 Malignant Hyperthermia Families: Novel Mutations and Concordance with the in Vitro Contracture Test

Malignant hyperthermia (MH) in man is an autosomal dominant disorder of skeletal muscle Ca2+-regulation. During anesthesia in predisposed individuals, it is triggered by volatile anesthetics and depolarizing muscle relaxants. In >50% of the families, MH susceptibility is linked to the gene encodi...

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Veröffentlicht in:	Human molecular genetics 1999-10, Vol.8 (11), p.2055-2062
Hauptverfasser:	Brandt, Annebill, Schleithoff, Lothar, Jurkat-Rott, Karin, Klingler, Werner, Baur, Christoph, Lehmann-Horn, Frank
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Substitution Anesthesia Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy Biological and medical sciences Child Classical genetics, quantitative genetics, hybrids Codon - genetics DNA Mutational Analysis Fatal Outcome Female Fundamental and applied biological sciences. Psychology Gene Frequency General anesthesia. Technics. Complications. Neuromuscular blocking. Premedication. Surgical preparation. Sedation Genetic Linkage Genetic Testing Genetics of eukaryotes. Biological and molecular evolution Genotype Germany - epidemiology Human Humans Male Malignant Hyperthermia - epidemiology Malignant Hyperthermia - genetics Medical sciences Muscle Contraction Muscle Proteins - chemistry Muscle Proteins - genetics Myopathy, Central Core - genetics Pedigree Phenotype Point Mutation Protein Structure, Tertiary - genetics Ryanodine Receptor Calcium Release Channel - chemistry Ryanodine Receptor Calcium Release Channel - genetics Sensitivity and Specificity
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