<p>Merosin-deficient congenital muscular dystrophy (MDC1A) is an autosomal recessive disorder caused by mutations in the LAMA2 gene, resulting in a defective form of the extracellular matrix protein laminin-α2 (LAMA2). Individuals diagnosed with MDC1A exhibit progressive muscle wasting and declining neuromuscular functions. No treatments for this disorder are currently available. This study involves transcriptomic comparison analysis between MDC1A patient fibroblasts and healthy control fibroblasts to reveal changes in gene expression that contribute to LAMA2 congenital muscular dystrophy (LAMA2-CMD). </p>

Therapeutic Genetics and Disease Modeling in LAMA2-CMD

1 selected publication including "CRISPRa-induced upregulation of human LAMA1 compensates for LAMA2-defi..." (3 citations)

Therapeutic Genetics and Disease Modeling in LAMA2-CMD

CRISPRa-induced upregulation of human LAMA1 compensates for LAMA2-deficiency in Merosin-deficient congenital muscular dystrophy