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Article

[Hot spot mutation screening of RYR1 gene in diagnosis of congenital myopathies].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 18 Oct 2014

Chang Xing-zhi, Jin Yi-wen, Wang Jing-min, Yuan Yun, Xiong Hui, Wang Shuang, Qin Jiong

Abstract excerpt

OBJECTIVE: To detect hot spot mutation of RYR1 gene in 15 cases of congenital myopathy with different subtypes, and to discuss the value of RYR1 gene hot spot mutation detection in the diagnosis of the disease. METHODS: Clinical data were collected in all the patients, including clinical manifestations and signs, serum creatine kinase, electromyography. Fourteen of the patients accepted the muscle biopsy. Hot...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myopathies, Structural, Congenital

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Share to Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 25331388

Genes

RYR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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