A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies - PubMed
11 hours ago
- #LEMD2 gene
- #muscular dystrophy
- #nuclear envelopathies
- A study identifies bi-allelic variants in the LEMD2 gene associated with muscular dystrophy, expanding the known genotype of nuclear envelopathies.
- The research utilized proteomics-guided exome re-analysis to uncover the LEMD2 gene's role in the nuclear envelope.
- The findings contribute to the understanding of the phenotypic spectrum of nuclear envelopathies, linking LEMD2 variants to muscular dystrophy.
- References highlight the importance of the nuclear envelope in pathology and the dynamic nature of LEMD2 localization, dependent on lamin A/C.
- Previous studies have associated recessive mutations in LEMD2 with arrhythmic cardiomyopathy and a nuclear envelopathy with early progeroid appearance.