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- W2018093973 abstract "Myotonic dystrophy (DM) is the most common adult form of muscular dystrophy, and is characterized by a peculiar multisystemic involvement. DM is caused by pathogenic expansions of unstable CTG repeats in the DMPK gene (DM1), or CCTG repeats in the ZNF9 gene (DM2). According to current understanding, DM pathogenesis is related to intranuclear toxicity of the mutant RNA, resulting in the impairment of alternative splicing of several genes. Only a few DM cases lacking segregation with DM1 and DM2 loci have been reported so far." @default.
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- W2018093973 date "2007-10-01" @default.
- W2018093973 modified "2023-09-24" @default.
- W2018093973 title "G.P.14.12 Myotonic dystrophy unlinked to DM1 and DM2 mutations in three siblings" @default.
- W2018093973 doi "https://doi.org/10.1016/j.nmd.2007.06.321" @default.
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