Longitudinal motor function in proximal versus distal DMD pathogenic variants.

ABSTRACT:

Introduction/aims

There is considerable heterogenicity in clinical outcomes in Duchenne muscular dystrophy (DMD). The aim of this study was to assess whether dystrophin gene (DMD) pathogenic variant location influences upper or lower extremity motor function outcomes in a large prospective cohort.

Methods

We used longitudinal timed and quantitative motor function measurements obtained from 154 boys with DMD over a 10-y period by the Cooperative International Neuromuscular Research Group Duchenne Natural History Study (CINRG-DNHS) to understand how the trajectories of motor function differ based on proximal versus distal DMD pathogenic variants. Proximal variants were defined as located proximal to 5' DMD intron 44, and distal variants as those including nucleotides 3' DMD in

SUBMITTER: Thangarajh M 

PROVIDER: S-EPMC8780240 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature