Article
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
Annals of neurology - 1 Sept 2008
Pace Rishika A, Peat Rachel A, Baker Naomi L, Zamurs Laura, Mörgelin Matthias, Irving Melita, Adams Naomi E, Bateman John F, Mowat David, Smith Nicholas J C, Lamont Phillipa J, Moore Steven A, Mathews Katherine D, North Kathryn N, Lamandé Shireen R
Abstract excerpt
OBJECTIVE: The collagen VI muscular dystrophies, Bethlem myopathy and Ullrich congenital muscular dystrophy, form a continuum of clinical phenotypes. Glycine mutations in the triple helix have been identified in both Bethlem and Ullrich congenital muscular dystrophy, but it is not known why they cause these different phenotypes. METHODS: We studied eight new patients who presented with a spectrum of clinical...
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