Fig. 1

The patient exhibited two heterozygous mutations in the RYR1 gene:

①c.11,608 + 1G > A: A guanine-to-adenine substitution at the + 1 nucleotide position following codon 11,608 in the coding sequence, resulting in a heterozygous mutation.

②c.13660-29G > A: A guanine-to-adenine substitution at the − 29 nucleotide position preceding codon 13,660 in the coding sequence, also classified as a heterozygous mutation.