|
Ullrich congenital muscular dystrophy 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 |
|
Ullrich congenital muscular dystrophy 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 |
|
Ullrich congenital muscular dystrophy 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we identified a homozygous COL6A2 E624K mutation (C1 subdomain) and a homozygous COL6A2 R876S mutation (C2 subdomain) in two UCMD patients.
|
20106987 |
2010 |
|
Ullrich congenital muscular dystrophy 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Natural history of Ullrich congenital muscular dystrophy.
|
19564581 |
2009 |
|
Ullrich congenital muscular dystrophy 1
|
0.800 |
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
|
0.800 |
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
|
0.800 |
GeneticVariation
|
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
|
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 |
|
Ullrich congenital muscular dystrophy 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report comparative morphological findings between a UCMD patient harboring a homozygous COL6A2 mutation and a patient with a typical UCMD phenotype in which mutations in COL6 genes were excluded.
|
17588753 |
2007 |
|
Ullrich congenital muscular dystrophy 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
UCMD, a severe disorder characterized by congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility, has been considered a recessive condition, and homozygous or compound heterozygous mutations have been defined in COL6A2 and COL6A3.
|
15563506 |
2005 |
|
Ullrich congenital muscular dystrophy 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 |
|
Ullrich congenital muscular dystrophy 1
|
0.800 |
GeneticVariation
|
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
|
0.800 |
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
|
0.800 |
Biomarker
|
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
|
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 |
|
Ullrich congenital muscular dystrophy 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Northern analysis indicated diminished COL6A2 mRNA expression as the primary pathogenic mechanism in this UCMD patient.
|
16075202 |
2005 |
|
Ullrich congenital muscular dystrophy 1
|
0.800 |
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
|
0.800 |
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
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Homozygous and compound heterozygous mutations of COL6A2 on chromosome 21q22 have recently been shown to cause UCMD.
|
11992252 |
2002 |
|
Ullrich congenital muscular dystrophy 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.
|
12218063 |
2002 |
|
Ullrich congenital muscular dystrophy 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.
|
11381124 |
2001 |
|
Ullrich congenital muscular dystrophy 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that at least some cases of Ullrich's disease result from recessive mutations in COL6A2.
|
11506412 |
2001 |
|
Ullrich congenital muscular dystrophy 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Ullrich congenital muscular dystrophy 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|