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Article

Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study.

Neuromuscular disorders : NMD - 1 May 2023

Kwong Anna Ky, Zhang Yanmin, Ho Ronnie Sl, Gao Yuan, Ling Xu, Tsang Mandy Hy, Luk H M, Chung Brian Hy, Bönnemann Carsten G, Javed Asif, Chan Sophelia Hs

Abstract excerpt

Collagen VI-related myopathies are a group of disorders that cause muscle weakness and joint contractures with significant variability in disease severity among patients. Here we report the clinical and genetic characteristics of 13 Chinese patients. Detailed histological, radiological and muscle transcriptomic evaluations were also conducted for selected representative patients. Across the cohort, fifteen...

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PMID: 37023487
DOI: 10.1016/j.nmd.2023.03.003

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