A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies.

Key Points

• The study aims to identify the role of bi-allelic LEMD2 variants in muscular dystrophy, contributing to the understanding of nuclear envelope disorders.
• Conducted proteomics-guided exome re-analysis.
• Identified bi-allelic variants in the LEMD2 gene.
• Expanded the phenotypic spectrum associated with LEMD2 variants.
• Confirmed the involvement of LEMD2 in muscular dystrophy.