Figure 3. Confirmation of single exon deletion and point mutation in RYR1 detected by next-generation sequencing.

(A) Sanger sequence for heterozygous c.9658A>G (p.T3220A). (B) Exon 39 heterozygous deletion was detected by copy number variation analysis. (C) Designed primers for exon 39 deletion. Forward primer: F, reverse primer: R, the total length between the primers is 4.3 kb. (D) DNA gel for exon 39 deletion; patients 25 and 26 have extra small fragments on the gel (∼2.7 kb).