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- W1966343863 abstract "Facioscapulohumeral muscular dystrophy (FSHD) is inherited as an autosomal dominant trait, unambiguously linked to the 4q35 genomic location. However, no causal gene has been identified so far, and an epigenetic mechanism, responsible for the loss of appropriate control over gene expression, has been proposed as a mechanistic hypothesis for the pathogenesis of the disease. From a clinical point of view, the rate of disease progression is generally variable and unpredictable, and it is quite common to observe the occurrence of acute phases characterized by episodes of rapid deterioration of muscle function involving only single defined muscle groupings." @default.
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- W1966343863 date "2008-10-01" @default.
- W1966343863 modified "2023-09-30" @default.
- W1966343863 title "D.P.1.06 Gene expression analysis in MRI positive FSHD muscles" @default.
- W1966343863 doi "https://doi.org/10.1016/j.nmd.2008.06.019" @default.
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