{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T02:06:05Z","timestamp":1780538765666,"version":"3.54.1"},"reference-count":43,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,11,22]],"date-time":"2010-11-22T00:00:00Z","timestamp":1290384000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Because of their central role in muscle development and maintenance, <jats:italic>MEF2<\/jats:italic> family members represent excellent candidate effectors of the muscle pathology in myotonic dystrophy (DM). We investigated the expression and alternative splicing of all four <jats:italic>MEF2<\/jats:italic> genes in muscle from neuromuscular disorder (NMD) patients, including DM1 and DM2. We observed <jats:italic>MEF2A<\/jats:italic> and <jats:italic>MEF2C<\/jats:italic> overexpression in all NMD muscle, including 12 <jats:italic>MEF2<\/jats:italic>\u2010interacting genes. Exon 4 and 5 usage in <jats:italic>MEF2A<\/jats:italic> and <jats:italic>MEF2C<\/jats:italic> was different between DM and normal muscle, with DM showing the embryonic isoform. Similar splicing differences were observed in other NMD muscle. For <jats:italic>MEF2C<\/jats:italic>, missplicing was more pronounced in DM than in other dystrophies. Our data confirm dysregulation of <jats:italic>MEF2A<\/jats:italic> and <jats:italic>MEF2C<\/jats:italic> 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. Muscle Nerve 42: 856\u2013863, 2010<\/jats:p>","DOI":"10.1002\/mus.21789","type":"journal-article","created":{"date-parts":[[2010,11,22]],"date-time":"2010-11-22T14:45:06Z","timestamp":1290437106000},"page":"856-863","source":"Crossref","is-referenced-by-count":53,"title":["Altered <i>MEF2<\/i> isoforms in myotonic dystrophy and other neuromuscular disorders"],"prefix":"10.1002","volume":"42","author":[{"given":"Linda L.","family":"Bachinski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Sirito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"B\u00f6hme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith 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