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, H M Luk, Brian HY Chung, Carsten G. Bönnemann, Asif Javed, H.S. Chan
Topics & Concepts
Collagen VIPhenotypeMissense mutationTranscriptomeMyopathyGeneticsMuscle biopsyPathologyBiologySkeletal muscleMedicineExtracellular matrixBioinformaticsInternal medicineGeneBiopsyGene expressionMuscle Physiology and DisordersCell Adhesion Molecules ResearchInflammatory Myopathies and Dermatomyositis