Quantitative proteomic analysis reveals metabolic alterations, calcium dysregulation and increased expression of extracellular matrix proteins in laminin α2 chain-deficient muscle.
Congenital muscular dystrophy with laminin α2 chain-deficiency (MDC1A) is one of the most severe forms of muscular disease and is characterized by severe muscle weakness and delayed motor milestones. The genetic basis of MDC1A is well-known, yet the secondary mechanisms ultimately leading to muscle degeneration and subsequent connective tissue infiltration are not fully understood. In order to obt
