A Novel LDB3 Mutation Identified in Patients with Late-Onset Myofibrillar Myopathy
- Author:
Nasrin TAMANNA
1
;
Soo Hyun NAM
;
Ah Jin LEE
;
Ki Wha CHUNG
;
Byung-Ok CHOI
Author Information
- Publication Type:Original Article
- From: Journal of Electrodiagnosis and Neuromuscular Diseases 2025;27(3):55-63
- CountryRepublic of Korea
- Language:English
-
Abstract:
Objective:Inherited myopathies are a diverse group of genetic muscle disorders characterized by muscle weakness and dysfunction resulting from mutations in genes with a wide range of biological functions. This study was performed to elucidate genetic causes in a large family with late-onset myofibrillar myopathy.
Methods:Whole-exome sequencing was first applied to the proband, and then subsequent filtering process and in silico analysis was performed to determine causative mutation.
Results:This study identified an unreported likely pathogenic mutation, p.Met160Ile, in the LIM domain binding 3 (LDB3) gene. This missense mutation showed complete cosegregation with affected individuals and was located at an evolutionarily well-conserved site. Several in silico analyses, along with simulations of three-dimensional structural changes in the mutant protein, predicted its potential pathogenicity.
Conclusion:These findings expand the current understanding of the genetic basis of inherited myopathy and underscore the importance of comprehensive genetic analysis in clinical practice.
