Clinical features of collagen VI-related dystrophies: A large Brazilian cohort
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DOI: 10.1016/j.clineuro.2020.105734
Abstract: OBJECTIVES Collagen VI-related dystrophies (COL6-RDs) have a broad clinical spectrum and are caused by mutations in the COL6A1, COL6A2 and COL6A3 genes. Despite the clinical variability, two phenotypes are classically recognized: Bethlem myopathy (BM, milder… read more here.
Keywords: collagen related; motor development; neonatal onset; onset manifestations ... See more keywords