|
BETHLEM MYOPATHY 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Dominant mutations in COL6A1, COL6A2, and COL6A3, the three genes encoding collagen type VI, a ubiquitous extracellular matrix protein, are associated with Bethlem myopathy (BM) and Ullrich scleroatonic muscular dystrophy.
|
15955946 |
2005 |
|
BETHLEM MYOPATHY 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes COL6A1, COL6A2, and COL6A3, coding for three α chains of collagen type VI, underlie a spectrum of myopathies, ranging from the severe congenital muscular dystrophy-type Ullrich (UCMD) to the milder Bethlem myopathy (BM), with disease manifestations of intermediate severity in between.
|
21496625 |
2011 |
|
BETHLEM MYOPATHY 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in collagen VI-related genes (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD).
|
28831785 |
2017 |
|
BETHLEM MYOPATHY 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities.
|
16141002 |
2005 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.
|
10399756 |
1999 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Bethlem myopathy (BM) [MIM 158810] is a slowly progressive muscle disease characterized by contractures and proximal weakness, which can be caused by mutations in one of the collagen VI genes (COL6A1, COL6A2 and COL6A3).
|
24334769 |
2014 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study not only broadens the allelic spectrum of pathogenic COL6A3 variants in myopathy but also gives an additional support to Ullrich congenital muscular dystrophy and Bethlem myopathy clinical continuum.
|
29894794 |
2018 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.
|
9536084 |
1998 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the collagen VI genes (COL6A1, COL6A2 and COL6A3) result in Ullrich congenital muscular dystrophy (CMD), Bethlem myopathy or phenotypes intermediate between Ullrich CMD and Bethlem myopathy.
|
19884007 |
2009 |
|
BETHLEM MYOPATHY 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in COL6A1, COL6A2, and COL6A3, the genes that encode the extracellular matrix component collagen VI, lead to Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD).
|
18378883 |
2008 |
|
BETHLEM MYOPATHY 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD).
|
15689448 |
2005 |
|
BETHLEM MYOPATHY 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
We demonstrate linkage to markers in this region, define the region of disease gene localization, and confirm by FISH analysis that COL6A3 is located within the interval of interest making COL6A3 a feasible candidate gene for the Bethlem myopathy.
|
8817344 |
1996 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD).
|
15563506 |
2005 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Skin abnormalities, including predisposition to keratosis pilaris and abnormal scarring, were described in Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) patients carrying mutations in COL6A1, COL6A2, and COL6A3 genes, whereas COL6A5, previously designated as COL29A1, was linked to atopic dermatitis.
|
20882040 |
2011 |
|
BETHLEM MYOPATHY 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two related conditions of differing severity.
|
18366090 |
2008 |
|
BETHLEM MYOPATHY 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
|
18366090 |
2008 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD).
|
15689448 |
2005 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
|
15563506 |
2005 |
|
BETHLEM MYOPATHY 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
|
17886299 |
2007 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
|
18366090 |
2008 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.
|
7695699 |
1994 |
|
BETHLEM MYOPATHY 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
|
BETHLEM MYOPATHY 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Early onset collagen VI myopathies: Genetic and clinical correlations.
|
20976770 |
2010 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
|
24038877 |
2013 |