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Article

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

Brain : a journal of neurology - 1 Jun 2006

Wu Shiwen, Ibarra M Carlos A, Malicdan May Christine V, Murayama Kumiko, Ichihara Yasuko, Kikuchi Hirosato, Nonaka Ikuya, Noguchi Satoru, Hayashi Yukiko K, Nishino Ichizo

Abstract excerpt

Ryanodine receptor 1 (RYR1) gene mutations are associated with central core disease (CCD), multiminicore disease (MmD) and malignant hyperthermia (MH), and have been reported to be responsible for 47-67% of patients with CCD and rare cases with MmD. However, to date, the true frequency and distribution of the mutations along the RYR1 gene have not been determined yet, since mutation screening has been limited to...

Topics

Adolescent
Adult
Biopsy
Child
Child, Preschool
DNA Mutational Analysis
Female
Genotype
Humans
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle, Skeletal

Mutation, Missense

Myopathy, Central Core

Phenotype

Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 16621918
DOI: 10.1093/brain/awl077

Genes

RYR1

Provenance

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

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Central core disease is due to RYR1 mutations in more than 90% of patients.PMID 16621918Read ↗

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

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

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

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