Article
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies.
Muscle & nerve - 1 Jul 2011
Gualandi Francesca, Curci Rosa, Sabatelli Patrizia, Martoni Elena, Bovolenta Matteo, Maraldi Mario N, Merlini Luciano, Ferlini And Alessandra
Abstract excerpt
INTRODUCTION: Collagen VI expression was tested in peripheral blood macrophages from patients with collagen VI-related myopathies and compared with muscle biopsy. METHODS: RNA and protein studies were performed in blood macrophages from 5 patients previously diagnosed with either Ullrich congenital muscular dystrophy (UCMD) or Bethlem myopathy (BM). The full spectrum of possible genotypes was considered,...
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