Limb Girdle Muscular Dystrophies Model

Limb Girdle Muscular Dystrophies (LGMD) is a genetically diverse and highly heterogeneous group of inherited muscle disorders, characterized by the involvement of the pelvic and scapular girdle muscles. Caused by genetic mutations that lead to defects in the function of myocyte proteins, LGMD affects all components of muscle fibers, including the nucleus, cytoplasm, sarcomere, muscle membrane, and extracellular matrix. LGMD is mainly divided into two major categories: LGMD1, which follows an autosomal dominant inheritance pattern and accounts for about 10%, and LGMD2, which is autosomal recessive and makes up about 90%. Among them, LGMD 2D is an autosomal recessive disorder caused by mutations in the α-sarcoglycan (SGCA) gene. Mutations in any sarcoglycan gene result in the concurrent loss or reduction of all four sarcoglycans (α, β, γ, and δ) in the muscle membrane, ultimately leading to myofibrosis and muscular dystrophy.

● Genetically Engineered LGMD Mouse Model