case_images: PMC10590604_01
case_images: Exome sequencing revealed a point mutation (amino acid change) on the RYR1 gene: c.12700G>C(p.Val4234Leu).
case_images: j_med-2023-0808-fig001.jpg
case_images: PMC10590604_01_j_med-2023-0808-fig001.jpg
case_images: j_med-2023-0808_fig_001
case_images: The sequencing revealed a point mutation (amino acid change) on the RYR1 gene: c.12700G>C(p.Val4234Leu) (Figure 1).