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• W2000695965 abstract "Because of their central role in muscle development and maintenance, MEF2 family members represent excellent candidate effectors of the muscle pathology in myotonic dystrophy (DM). We investigated the expression and alternative splicing of all four MEF2 genes in muscle from neuromuscular disorder (NMD) patients, including DM1 and DM2. We observed MEF2A and MEF2C overexpression in all NMD muscle, including 12 MEF2-interacting genes. Exon 4 and 5 usage in MEF2A and MEF2C was different between DM and normal muscle, with DM showing the embryonic isoform. Similar splicing differences were observed in other NMD muscle. For MEF2C, missplicing was more pronounced in DM than in other dystrophies. Our data confirm dysregulation of MEF2A and MEF2C expression and splicing in several NMD, including DM. Our findings demonstrate that aberrant splicing in NMD is independent from expression of mutant repeats, and suggests that some aberrant splicing, even in DM, may be compensatory rather than primary." @default.
• W2000695965 created "2016-06-24" @default.
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• W2000695965 date "2010-11-22" @default.
• W2000695965 modified "2023-09-25" @default.
• W2000695965 title "Altered <i>MEF2</i> isoforms in myotonic dystrophy and other neuromuscular disorders" @default.
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• W2000695965 doi "https://doi.org/10.1002/mus.21789" @default.
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