Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis.

ABSTRACT:

Introduction

Hereditary myopathies arise due to numerous pathogenic variants occurring in distinct genes, which amount to several hundred. Limb-girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders involving more than 30 genes. Clinically, LGMD is characterized by limb-girdle muscular weakness (LGMW). Late-onset Pompe disease is an important disorder with a differential diagnosis for LGMD, where next-generation sequencing (NGS) plays a crucial role in accurate and prompt diagnosis. The sensitivity and specificity of a 10-gene NGS panel have been previously evaluated for the prevalent forms of recessive LGMD (LGMD-R) and Pompe disease in Latin American patients with LGMW of unknown cause. This project aims to identify the regional relative p

SUBMITTER: Bevilacqua JA 

PROVIDER: S-EPMC11638199 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature