|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
|
28688748 |
2017 |
|
BETHLEM MYOPATHY 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
|
27447704 |
2017 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
|
26004199 |
2015 |
|
BETHLEM MYOPATHY 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.
|
26247046 |
2015 |
|
BETHLEM MYOPATHY 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
|
26004199 |
2015 |
|
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 |
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 |
|
BETHLEM MYOPATHY 1
|
0.800 |
CausalMutation
|
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 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.
|
21280092 |
2011 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Early onset collagen VI myopathies: Genetic and clinical correlations.
|
20976770 |
2010 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Early onset collagen VI myopathies: Genetic and clinical correlations.
|
20976770 |
2010 |
|
BETHLEM MYOPATHY 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Natural history of Ullrich congenital muscular dystrophy.
|
19564581 |
2009 |
|
BETHLEM MYOPATHY 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
|
BETHLEM MYOPATHY 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
|
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 |
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 |
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
|
18366090 |
2008 |
|
BETHLEM MYOPATHY 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
|
18825676 |
2008 |
|
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), two related conditions of differing severity.
|
18366090 |
2008 |