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. 2018 Oct 26;9(11):524. doi: 10.3390/genes9110524

Figure 2.

Figure 2

Molecular characterization of LAMA2 variants in patients V and VIII. Single nucleotide variants in LAMA2 occurred in compound heterozygosity with a duplication. (a) Integrative Genomics Viewer (IGV) [27] visualization and Sanger confirmation of c.5374G>T (patient V); (b) Characterization of exon 21–55 duplication on RNA (patient V). (c) The splice variant c.6429+3A>C characterized on muscle transcript, leads to skipping of exons 44–45 (patient VIII); (d) Fine mapping of the tandem duplication on muscle RNA transcript (patient VIII).