CONGENITAL MUSCULAR DYSTROPHIES: P.192 Gene therapy approach for LAMA2-related muscular dystrophy using linker proteins

Abstract

LAMA2-related muscular dystrophy (LAMA2 MD or MDC1A) is the most frequent form of congenital muscular dystrophies. It is caused by mutations in LAMA2, the gene encoding laminin-α2, the long arm of the heterotrimeric (α2, β1, γ1) basement membrane protein laminin-211 (Lm-211). Patients with the early-onset form lack Lm-211 due to biallelic loss-of-function mutations in LAMA2. The large size of the cDNA encoding laminin-α2 and the heterotrimeric structure of Lm-211 present a challenge for gene replacement or gene editing strategies.