Functional studies conducted by Z. Tezak indicated that this variant, as well as the c.5562+5G>A variant, was observed in patients with a mild form of merosin-deficient MD in a heterozygous state (no second variants detected) and led to the formation of two transcripts—one with an insertion spanning 11 nucleotides and another with the deletion of exon 38 [12]. This evidence concerns the gene LAMA2 and Menkes disease.