Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity
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DOI: 10.1016/j.nmd.2020.03.010
Abstract: Recently the scientific community has started to view Bethlem myopathy 1 and Ullrich congenital muscular dystrophy as two extremes of a collagen VI-related myopathy spectrum rather than two separate entities, as both are caused by… read more here.
Keywords: collagen related; limb girdle; related limb; girdle syndrome ... See more keywords