Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.

ABSTRACT:

Background

Genetic neuromuscular diseases (NMDs) are a heterogeneous group of conditions that primarily affect the peripheral nerves, muscles, and neuromuscular junctions. This study was performed to identify pathogenic or likely pathogenic variants (PLPVs), calculate carrier frequencies, and predict the genetic prevalence of autosomal recessive-NMDs (AR-NMDs) in a Korean population.

Methods

In total, 267 genes were associated with AR-NMDs. We analyzed genetic variants from 984 Korean whole genomes and identified PLPVs to assess the carrier frequency and genetic prevalence of the variants.

Results

We identified 165 PLPVs, including 75 literature verified and 90 manually verified variants. Most PLPVs in AR-NMD genes were frameshifts (61, 37.0%), followed by nonsense (3

SUBMITTER: Kim SH 

PROVIDER: S-EPMC12089688 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature