×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
GeneticVariation
CLINVAR
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
27854218
2016
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
GeneticVariation
CLINVAR
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.
25380242
2015
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
GeneticVariation
CLINVAR
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
25533456
2015
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
CausalMutation
CLINVAR
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.
25535305
2015
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
CausalMutation
CLINVAR
Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.
24801232
2014
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
CausalMutation
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
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
CausalMutation
CLINVAR
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
23326386
2013
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
GeneticVariation
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
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
CausalMutation
CLINVAR
LOVD v.2.0: the next generation in gene variant databases.
21520333
2011
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
CausalMutation
CLINVAR
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.
21280092
2011
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
CausalMutation
CLINVAR
Early onset collagen VI myopathies: Genetic and clinical correlations.
20976770
2010
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
CausalMutation
CLINVAR
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.
20576434
2010
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
GeneticVariation
CLINVAR
Early onset collagen VI myopathies: Genetic and clinical correlations.
20976770
2010
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
GeneticVariation
CLINVAR
Autosomal recessive inheritance of classic Bethlem myopathy.
19884007
2009
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
GeneticVariation
CLINVAR
Collagen structure and stability.
19344236
2009
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
GeneticVariation
CLINVAR
Autosomal recessive Bethlem myopathy.
19949035
2009
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
CausalMutation
CLINVAR
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.
19309692
2009
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
CausalMutation
CLINVAR
Collagen structure and stability.
19344236
2009
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
CausalMutation
CLINVAR
Autosomal recessive Bethlem myopathy.
19949035
2009
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
GeneticVariation
CLINVAR
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
18366090
2008
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
CausalMutation
CLINVAR
Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan.
17785673
2007
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
GeneticVariation
CLINVAR
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
17886299
2007
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
GeneticVariation
CLINVAR
Mutations in the genes encoding collagen VI (COL6A1, COL6A2 , and COL6A3) cause Bethlem myopathy (BM ) and Ullrich congenital muscular dystrophy (UCMD).
15689448
2005
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
CausalMutation
CLINVAR
Mutations in the genes encoding collagen VI (COL6A1, COL6A2 , and COL6A3) cause Bethlem myopathy (BM ) and Ullrich congenital muscular dystrophy (UCMD).
15689448
2005
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
BETHLEM MYOPATHY 1
0.790
CausalMutation
CLINVAR
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
11865138
2002