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Merosin-Deficient Congenital Muscular Dystrophy

Definition

Merosin-deficient congenital muscular dystrophy (MDC1A) is a rare genetic disorder characterized by muscle weakness, hypotonia, and developmental delays. It is caused by mutations in the LAMA2 gene, which leads to a deficiency of the protein merosin (laminin-α2) in the extracellular matrix of skeletal muscles, affecting their function and stability.