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

ABSTRACT:

Objective

We tested the hypothesis that variant repeat interruptions (RIs) within the DMPK 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, the RI participants were intermediate between UA and PR participants. For muscle strength, the RI group was significantly less impaired than the PR group. For measures of Full Scale IQ, depression, and sleepiness, all 3 groups were significantly different from each other with

SUBMITTER: Miller JN 

PROVIDER: S-EPMC7428360 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature