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Article

Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.

Muscle & nerve - 1 Sept 2016

Zhao Yan, Hu Jing, Zhao Zhe, Shen Hongrui, Bing Qi, Li Nan

Abstract excerpt

INTRODUCTION: Ryanodine receptor 1 (RYR1), myosin heavy chain 7 (MYH7), and selenoprotein N1 (SEPN1) mutations are associated with core myopathies. RYR1 mutations cause most cases of central core disease (CCD). METHODS: We screened 8 Chinese patients with clinicopathological diagnosis of CCD. Genetic analysis was carried out by targeted next generation sequencing (NGS) to identify causative genes. Variants were...

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Source

Identifiers

PMID: 26799446
DOI: 10.1002/mus.25050

Genes

RYR1
MYH7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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