Condition: Ullrich congenital muscular dystrophy 1
rs121912938 in
COL6A1 gene and
Ullrich congenital muscular dystrophy 1
PMID 17785674 2007 Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.
PMID 15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
PMID 16130093 2005 Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.
PMID 24038877 2013 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.
rs387906608 in
COL6A2 gene and
Ullrich congenital muscular dystrophy 1
PMID 21078917 2010 Consensus statement on standard of care for congenital muscular dystrophies.
PMID 15563506 2005 Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
PMID 15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
rs398124126 in
COL6A3 gene and
Ullrich congenital muscular dystrophy 1
PMID 19564581 2009 Natural history of Ullrich congenital muscular dystrophy.
PMID 15563506 2005 Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
PMID 15689448 2005 Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
PMID 18366090 2008 Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.