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Article

Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report.

Medicine - 8 Dec 2023

Li Jiayi, Lin Shuangzhu, Wu Qiong, Feng Jinhua, Chen Qiandui, Jiang Kai

Abstract excerpt

RATIONALE: Mutations in the gene encoding type VI collagen cause Bethlem myopathy (MIM 158810) and Ullrich congenital muscular dystrophy (MIM 254090); 2 diseases previously recognized as completely independent, and have been increasingly recognized. However, collagen-related myopathy caused by intron variation in the COL6 gene is rarely reported in China. Ullrich congenital muscular dystrophy is an autosomal...

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Identifiers

PMID: 38065855
DOI: 10.1097/MD.0000000000036398
PMCID: PMC10713163

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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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