G.P.14.02 MLPA analysis of the CAPN3 gene detects large deletions in LGMD2A patients (original) (raw)

2008, Neuromuscular Disorders

AI-generated Abstract

Limb Girdle Muscular Dystrophy type 2A (LGMD2A) is primarily caused by mutations in the CAPN3 gene. While many mutations identified are point mutations, this research identifies large multi-exonic deletions using Multiplex Ligation Probe dependent Amplification (MLPA). Analysis of 43 Dutch patients revealed that 7% had significant deletions in CAPN3, with associated reductions in calpain-3 protein levels. Furthermore, the study examined nonsense-mediated mRNA decay (NMD) affecting CAPN3 and DMD transcripts, demonstrating variable NMD performance depending on the gene.