RNA mis-splicing in children with congenital myotonic dystrophy is associated with physical function.

ABSTRACT:

Objectives

Dysregulated RNA alternative splicing is the hallmark of myotonic dystrophy type 1 (DM1). However, the association between RNA mis-splicing and physical function in children with the most severe form of disease, congenital myotonic dystrophy (CDM), is unknown.

Methods

Eighty-two participants (42 adults with DM1 and 40 children with CDM) with muscle biopsies and measures of myotonia, motor function, and strength were combined from five observational studies. Data were normalized and correlated with an aggregate measure of alternative splicing dysregulation, [MBNL]_inferred, in skeletal muscle biopsies. Multiple linear regression analysis was performed to predict [MBNL]_inferred using clinical outcome measures alone. Similar analyses were perform

SUBMITTER: Hartman JM 

PROVIDER: S-EPMC11651218 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature