CONGENITAL MUSCULAR DYSTROPHIES

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Collagen VI-related myopathies encompass a continuum of overlapping phenotypes ranging from severe Ullrich congenital muscular dystrophy to mild Bethlem myopathy. Categorizing patients with collagen VI-related myopathies into groups from early stages according to expected clinical course is particularly relevant to deepen understand the natural history of the diverse phenotypes and to accurately test the efficacy of therapies, which are currently under development. According to the maximal motor capacity achieved, we stratified the phenotypes of 63 patients with collagen VI-related myopathy into 4 clinical categories.

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