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Use of RNA‑sequencing to detect abnormal transcription of the collagen α‑2 ( VI) chain gene that can lead to Bethlem myopathy
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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix | Genetics in Medicine
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The collagen VI-related myopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy - ScienceDirect
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Muscle MRI of patients with collagen VI related myopathy, HIBMPD and... | Download Scientific Diagram
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Collagen VI regulates motor circuit plasticity and motor performance by cannabinoid modulation | bioRxiv
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The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. - Abstract - Europe PMC
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Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s) | Journal of Neurology, Neurosurgery & Psychiatry
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Frontiers | Cross-Talk Between Extracellular Matrix and Skeletal Muscle: Implications for Myopathies
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Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies - ScienceDirect
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Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan | Neurology
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Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy | SpringerLink
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