Biallelic variants in LAMA2 cause muscular dystrophies, with a correlation between phenotype and genotype reported.41 Biallelic truncating variants in LAMA2 are associated with a severe, early onset congenital muscular dystrophy type 1A, whereas missense and some splicing variants lead to a less severe and often later onset LGMD. This evidence concerns the gene LAMA2 and Congenital muscular dystrophy type 1A.