Article
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.
Neuromuscular disorders : NMD - 1 Aug 2010
Deconinck N, Dion E, Ben Yaou R, Ferreiro A, Eymard B, Briñas L, Payan C, Voit T, Guicheney P, Richard P, Allamand V, Bonne G, Stojkovic T
Abstract excerpt
Bethlem myopathy and Ullrich congenital muscular dystrophy are part of the heterogeneous group of collagen VI-related muscle disorders. They are caused by mutations in collagen VI (ColVI) genes (COL6A1, COL6A2, and COL6A3) while LMNA mutations cause autosomal dominant Emery-Dreifuss muscular dystrophy. A muscular dystrophy pattern and contractures are found in all three conditions, making differential diagnosis...
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