Kinked Collagen VI Tetramers and Reduced Microfibril Formation as a Result of Bethlem Myopathy and Introduced Triple Helical Glycine Mutations

This publication has 31 references indexed in Scilit:

• A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen α3(VI) chain interferes with protein folding
  The FASEB Journal, 2000
• Bethlem Myopathy and Engineered Collagen VI Triple Helical Deletions Prevent Intracellular Multimer Assembly and Protein Secretion
  Published by Elsevier ,1999
• A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen
  Neuromuscular Disorders, 1999
• A Heterozygous Splice Site Mutation in COL6A1 Leading to an In-Frame Deletion of the α1(VI) Collagen Chain in an Italian Family Affected by Bethlem Myopathy
  Biochemical and Biophysical Research Communications, 1999
• Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
  Brain, 1999
• Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
  Human Molecular Genetics, 1998
• Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures
  Nature Genetics, 1996
• Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37
  Human Molecular Genetics, 1996
• Genetic localization of Bethlem myopathy
  Neurology, 1996
• BENIGN MYOPATHY, WITH AUTOSOMAL DOMINANT INHERITANCE
  Brain, 1976