In addition to S8, this variant was reported twice in trans with other variants: once with a deletion of exon 56 (c.7750_7899del) in a patient with hypotonia and severe dystrophic changes in muscle biopsy [32], and once with p.Cys2909Arg in a patient with late onset merosin-deficient CMD [33]. Here, LAMA2 is linked to congenital muscular dystrophy.