case_images: PMC8634650_01
case_images: PMC8634650_02
case_images: PMC8634650_03
case_images: A timeline with relevant data from the patient episode of care.
case_images: fped-09-754261-g0001.jpg
case_images: PMC8634650_03_fped-09-754261-g0001.jpg
case_images: F1
case_images: A timeline with relevant data from the patient episode of care is shown in Figure 1.
case_images: De novo c.892C>T (p.Arg298Trp) missense change in NACC1. (A) Pedigree of the family. A heterozygous missense was detected in the proband but not the parents. (B) Sanger validation of the missense variant in the proband and parents. Arrow indicates the site of the variant.
case_images: fped-09-754261-g0002.jpg
case_images: PMC8634650_03_fped-09-754261-g0002.jpg
case_images: F2
case_images: NACC1 (GenBank NM_052876_3), as shown in Figure 2. Now, the child regularly goes to the hospital for rehabilitation training (once a month).