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Article

Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.

Cell calcium - 1 Sept 2002

Galli L, Orrico A, Cozzolino S, Pietrini V, Tegazzin V, Sorrentino V

Abstract excerpt

Mutations in the ryanodine receptor type 1 (RYR1) gene are associated with Malignant Hyperthermia (MH) and Central Core Disease (CCD). We report here on the molecular analysis of the RYR1 gene in Italian families referred as potential cases of MH or in patients with CCD or multicore/minicore myopathy. Of a total of 20 individuals with mutations in the RYR1 gene, 14 were part of a group of 47 MH susceptible (MHS)...

Topics

Amino Acid Sequence
Female
Humans
Italy
Male
Malignant Hyperthermia
Molecular Sequence Data
Mutation
Myopathy, Central Core
Patients
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Risk Factors

Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 12208234
DOI: 10.1016/s0143-4160(02)00138-0

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.PMID 12208234Read ↗

Mutations in RYR1 in malignant hyperthermia and central core disease.Semantic proximity Read ↗

Central core disease is due to RYR1 mutations in more than 90% of patients.Semantic proximity Read ↗

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.Semantic proximity Read ↗

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.Semantic proximity Read ↗

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.Semantic proximity Read ↗

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.Semantic proximity Read ↗

Ryanodine receptor mutations in malignant hyperthermia and central core disease.Semantic proximity Read ↗

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.Semantic proximity Read ↗

Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.Semantic proximity Read ↗

Central core disease due to recessive mutations in RYR1 gene: is it more common than described?Semantic proximity Read ↗

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.Semantic proximity Read ↗

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.Semantic proximity Read ↗

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