Autosomal recessive Bethlem myopathy.

  title={Autosomal recessive Bethlem myopathy.},
  author={Francesca Gualandi and Anna Urciuolo and Elena Martoni and Patrizia Sabatelli and Stefano Squarzoni and Matteo Bovolenta and Sonia Messina and Eugenio Mercuri and Andrea Franchella and Alessandra Ferlini and Paolo Bonaldo and Luciano Merlini},
  volume={73 22},
BACKGROUND Bethlem myopathy is a well-defined clinical entity among collagen VI disorders, featuring proximal muscle weakness and contractures of the fingers, wrists, and ankles. It is an early-onset, slowly progressive, and relatively mild disease, invariably associated to date with heterozygous dominant mutations in the 3 collagen VI genes. We have characterized the clinical, laboratory, and genetic features of autosomal recessive Bethlem myopathy in 2 unrelated patients. METHODS This study… CONTINUE READING