Ullrich congenital muscular dystrophy 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in COL6A3 are described in UCMD for the first time and illustrate the wide spectrum of phenotypes which can be caused by collagen VI deficiency.
|
11992252 |
2002 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
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 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
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 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We undertook two prenatal diagnoses for UCMD in a consanguineous family where the disease was consistent with linkage to the COL6A3 locus and immunolabelling of collagen VI in the proband's skeletal muscle was severely reduced.
|
15229843 |
2004 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
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 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the COL6A1, COL6A2 (21 q22.3) and COL6A3 (2 q37) genes, encoding the alpha 1, alpha 2 and alpha 3 chains of collagen VI, respectively, have been recently identified as responsible for UCMD in a total of 9 families.
|
15127309 |
2004 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
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 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
AlteredExpression
|
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 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
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 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here we report 10 unrelated patients with a UCMD clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2, and COL6A3 and contrast our findings with four UCMD patients with recessively acting splice mutations and two BM patients with heterozygous splice mutations.
|
18366090 |
2008 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
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 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
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 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich congenital muscular dystrophy (UCMD), a frequently severe disorder characterized by congenital muscle weakness with joint contractures and coexisting distal joint hyperlaxity.
|
12840783 |
2003 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
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 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in COL6A1, COL6A2 and COL6A3 genes cause Ullrich Congenital Muscular Dystrophy (UCMD), Bethlem Myopathy, and Myosclerosis.
|
22226732 |
2012 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
|
15563506 |
2005 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Natural history of Ullrich congenital muscular dystrophy.
|
19564581 |
2009 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Here we report 10 unrelated patients with a UCMD clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2, and COL6A3 and contrast our findings with four UCMD patients with recessively acting splice mutations and two BM patients with heterozygous splice mutations.
|
18366090 |
2008 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Ullrich congenital muscular dystrophy 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Ullrich congenital muscular dystrophy 1
|
1.000 |
Biomarker
|
disease |
MGD |
The resulting heterozygous mouse, Col6a3(+/d16), produced comparable amounts of normal Col6a3 mRNA and a mutant transcript with an in-frame deletion of 54 bp of triple-helical coding sequences, thus mimicking the most common molecular defect found in dominant Ullrich congenital muscular dystrophy patients.
|
24563484 |
2014 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Here we report 10 unrelated patients with a UCMD clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2, and COL6A3 and contrast our findings with four UCMD patients with recessively acting splice mutations and two BM patients with heterozygous splice mutations.
|
18366090 |
2008 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD).
|
15689448 |
2005 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD).
|
15689448 |
2005 |
Ullrich congenital muscular dystrophy 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Natural history of Ullrich congenital muscular dystrophy.
|
19564581 |
2009 |