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Article

One case of congenital myopathy caused by new mutation of RYR1 gene and literature review.

Gene - 5 Aug 2023

Deng Qingxian, Ding Zhongying, Fu Qinqin, Lin Meifang

Abstract excerpt

OBJECTIVE: To report a case of congenital myopathy caused by RYR1 gene complex heterozygous mutation and analyze the pathogenicity of the mutation. Method The clinical manifestation, laboratory examination, imaging findings, muscle pathology and gene test results of a child with congenital myopathy were analyzed retrospectively. Combined with literature review, it is analyzed and discussed. Result The child,...

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PMID: 37207825
DOI: 10.1016/j.gene.2023.147493

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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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