Fig. 2From: Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case reportFunctional analysis results. The minigene assay revealed that c.1582 + 5G > A variant leads to two independent pathogenic splicing alteration: a 57 (Δ57) and a 91 (Δ91) nucleotide truncation. On the top schematic minigene design is depicted. WT- wild type, Mut- mutation. The uncropped version of the gel image is available as additional file 1Back to article page