Novel POMT2 variants associated with limb-girdle muscular dystrophy R14: genetic, histological and functional studies.

ABSTRACT:

Background

The POMT2 gene, which encodes protein O-mannosyltransferase 2, is essential for α-dystroglycan glycosylation. Variants in POMT2 cause various disorders, including the relatively rare presentation of limb-girdle muscular dystrophy R14 (LGMDR14).

Methods

This study retrospectively analyzed the clinical, pathological, and genetic data of three LGMDR14 patients. And we investigated the pathogenic mechanisms of POMT2 variants through aberrant mRNA processing analysis and molecular dynamics simulations to assess their impact on protein structure and function.

Results

We recruited three LGMDR14 patients from unrelated Chinese families, all presenting with adult-onset proximal muscle weakness. All of these patients showed a myopathic pattern on electromyography and

SUBMITTER: Yang G 

PROVIDER: S-EPMC11921505 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature