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Article

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1

13 Aug 2020

Abstract excerpt

OBJECTIVE: CTG repeat tract lead to milder symptoms compared with pure repeats (PRs) in myotonic dystrophy type 1 (DM1). METHODS: We evaluated motor, neurocognitive, and behavioral outcomes in a group of 6 participants with DM1 with RI compared with a case-matched sample of 12 participants with DM1 with PR and a case-matched sample of 12 unaffected healthy comparison participants (UA). RESULTS: In every measure,...

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PMID: 32851192
DOI: 10.1212/nxg.0000000000000504

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