Clinical features of collagen VI-related dystrophies: A large Brazilian cohort
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Neurology and Neurosurgery"
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
Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Bioengineering and Biotechnology"
DOI: 10.3389/fbioe.2022.851825
Abstract: Collagen VI-related dystrophies (COL6-RDs) are a group of rare congenital neuromuscular dystrophies that represent a continuum of overlapping clinical phenotypes that go from the milder Bethlem myopathy (BM) to the severe Ullrich congenital muscular dystrophy,… read more here.
Keywords: personalized vitro; collagen related; extracellular matrix; col6 rds ... See more keywords