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The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.
Winokur ST, Bengtsson U, Feddersen J, Mathews KD, Weiffenbach B, Bailey H, Markovich RP, Murray JC, Wasmuth JJ, Altherr MR, et al. Winokur ST, et al. Chromosome Res. 1994 May;2(3):225-34. doi: 10.1007/BF01553323. Chromosome Res. 1994. PMID: 8069466