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Article

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

Human mutation - 1 Apr 2009

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

Abstract excerpt

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 novel polymorphisms were identified. Immortalized lymphoblastoid cell lines from patients with RYR1 variants and from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19191333
DOI: 10.1002/humu.20991

Genes

RYR1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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