LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort.

ABSTRACT:

Objective

To characterize natural history of Laminin-α2 related muscular dystrophies (LAMA2-RD) to help anticipating complications and identifying reliable outcome measures for clinical trial design and powering.

Methods

We conducted a retrospective, single-center, cross-sectional and longitudinal study on 46 LAMA2-RD pediatric patients (37 families). Patients were seen at the Dubowitz Neuromuscular Centre, London between 1985 and 2019. Data were collected by case note reviews. Time-to-event analysis was performed to estimate median age at complications occurrence.

Results

Forty two patients had complete deficiency of Laminin-α2 (CD) and four had partial deficiency (PD). Median age at first and last assessment was 2 years and 12.1 years, respectively. Median follow-up

SUBMITTER: Zambon AA 

PROVIDER: S-EPMC7545609 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature