Effects of N-acetyl-L-cysteine and vitamin E on congenital muscular dystrophy type 1A disease progression in mice
Congenital muscular dystrophy with laminin alpha2 chain-deficiency (LAMA2-CMD) is a severe neuromuscular disorder without cure. Previously, we have demonstrated significant metabolic impairment in skeletal muscle from LAMA2-CMD patients and mouse models using transcriptome and proteome profiling as well and functional assays (e.g. reduced mitochondrial respiration and a compensatory upregulation o