Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes

Mutations in the RYR1 gene are linked to malignant hyperthermia (MH), central core disease and multi-minicore disease. We screened by DHPLC the RYR1 gene in 24 subjects for mutations, and characterized functional alterations caused by some RYR1 variants. Three novel sequence variants and twenty nove...

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Veröffentlicht in:	Human mutation 2009-04, Vol.30 (4), p.E575-E590
Hauptverfasser:	Zullo, Alberto, Klingler, Werner, De Sarno, Claudia, Ferrara, Marina, Fortunato, Giuliana, Perrotta, Giuseppa, Gravino, Elvira, Di Noto, Rosella, Lehmann-Horn, Frank, Melzer, Werner, Salvatore, Francesco, Carsana, Antonella
Format:	Artikel
Sprache:	eng
Schlagworte:	B-lymphocytes B-Lymphocytes - cytology B-Lymphocytes - drug effects B-Lymphocytes - metabolism calcium channel Cell Line, Transformed Chromatography, High Pressure Liquid - methods Cresols - pharmacology DNA Mutational Analysis Extracellular Space - chemistry Extracellular Space - drug effects Family Health Female Gene Frequency Genetic Predisposition to Disease Genetic Testing Genetic Variation Humans Hydrogen-Ion Concentration Male malignant hyperthermia Malignant Hyperthermia - blood Malignant Hyperthermia - diagnosis Malignant Hyperthermia - genetics Mutation Myopathies, Structural, Congenital - blood Myopathies, Structural, Congenital - diagnosis Myopathies, Structural, Congenital - genetics Pedigree Polymorphism, Genetic proton release Ryanodine Receptor Calcium Release Channel - genetics Ryanodine Receptor Calcium Release Channel - physiology RYR1
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