Associated Papers
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38585825 (PubMed )
Supplement: media-1.docx
Causative variant profile of collagen VI-related dystrophy in Japan.
Inoue M et al.
Orphanet Journal of Rare Diseases, 2021
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.
Lee JH et al.
Journal of Clinical Neurology (seoul, Korea), 2017
Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.
Butterfield RJ et al.
Plos One, 2017
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