Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up.

ABSTRACT:

Objective

To test the hypothesis that we will be able to detect change in motor outcome measures over time in a cohort with mutations in FKRP.

Methods

Individuals with documented FKRP mutations were evaluated annually with a battery of established motor outcome measures including limited quantitative myometry and timed function measures. Results were analyzed using random coefficient regression to determine annual change in each measure. Due to the nonlinear progression through the lifespan of the study participants, pediatric (<19 years) and adult (≥19 years) cohorts were analyzed separately. Effect of genotype was evaluated in each cohort.

Results

Sixty-nine participants (30 pediatric, 44 adult) with at least 2 evaluations were included. There was a sm

SUBMITTER: Gedlinske AM 

PROVIDER: S-EPMC7713753 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature