The p.R249W Mutation in LMNA-Related Congenital Muscular Dystrophy Causes Nuclear Deformities and an Enrichment in Lamin A/C at the Ends of the Nucleus.

Abstract excerpt

LMNA-related congenital muscular dystrophy (L-CMD) is a rare genetic disorder that causes skeletal muscle weakening and wasting. Although L-CMD is caused by a variety of de novo point mutations in the LMNA gene, the p.R249W (Arg.249Trp.) pathogenic variant is the focus of this study because it is the most prevalent one among patients. We investigated the relationship between the p.R249W variant and the...

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