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

Anna KY Kwong, Yanmin Zhang,Ronnie SL Ho, Yuan Gao, Xu Ling,Mandy HY Tsang,HM Luk,Brian HY Chung,Carsten G Bönnemann,Asif Javed,Sophelia HS Chan

Neuromuscular Disorders（2023）

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摘要

•Good phenotypic-genotypic correlation of 13 patients with collagen VI MD.•Most patients (80%) have dominant negative mutations in triple helical domain.•Transcriptomic evaluation suggest perturbation to skeletal muscle differentiation.

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关键词

Collagen-related myopathies, Bethlem myopathy, Ullrich congenital muscular dystrophy

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