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
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity
Sign Up to like & getrecommendations! Published in 2020 at "Neuromuscular Disorders"
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
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion.
Sign Up to like & getrecommendations! Published in 2020 at "Neuropediatrics"
DOI: 10.1055/s-0040-1714125
Abstract: The genetic etiology of collagen VI related muscular dystrophies is heterogenous. Genomic deletions in one allele involving COL6A2 or both COL6A1 and COL6A2 unmasking a pathogenic variant in the second nondeleted allele have been described… read more here.
Keywords: collagen related; etiology; related muscular; col6a2 ... See more keywords
Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen‐related genes
Sign Up to like & getrecommendations! Published in 2020 at "Haemophilia"
DOI: 10.1111/hae.14195
Abstract: Variants in collagen‐related genes COL1A1, COL3A1, COL5A1 and COL5A2 are associated with Ehlers‐Danlos syndrome (EDS), a heterogeneous group of connective tissue disorders strongly associated with increased bleeding. Of patients with incompletely explained bleeding diathesis, a… read more here.
Keywords: collagen; collagen related; collagen remodelling; variants collagen ... 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
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2022.957733
Abstract: Disease-causing variants in COL4A3-5 are associated with type-IV-collagen-related nephropathy, a genetically and phenotypically multifaceted disorder comprising Alport syndrome (AS) and thin basement membrane nephropathy (TBMN) and autosomal, X-linked and a proposed digenic inheritance. Initial symptoms… read more here.
Keywords: type collagen; collagen related; related nephropathy; genetics ... See more keywords
The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23147651
Abstract: Collagen VI-related disorders (COL6-RD) represent a severe form of congenital disease for which there is no treatment. Dominant-negative pathogenic variants in the genes encoding α chains of collagen VI are the main cause of COL6-RD.… read more here.
Keywords: collagen; collagen related; muscular dystrophy; related muscular ... See more keywords