CONGENITAL MUSCULAR DYSTROPHIES

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LAMA2-CMD, a devastating form of muscular dystrophy, is caused by mutations in the laminin α2 chain gene. All clinical manifestations associated with the disease elicit suffering and enormous complications in everyday life of patients and their families. Thus, a cure for LAMA2-CMD is desperately needed. LAMA2-CMD is either a severe, early-onset condition with complete loss of laminin α2 subunit or a milder, late-onset form with partial laminin α2 chain-deficiency. Mouse models dy3K/dy3K (completely devoid of laminin α2 subunit) and dy2J/dy2J (that express a substantial amount of laminin α2 molecule without N-terminal domain) mirror these two variants of LAMA2-CMD very well.

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