PMC8634650_01
PMC8634650_02
PMC8634650_03
A timeline with relevant data from the patient episode of care.
fped-09-754261-g0001.jpg
PMC8634650_03_fped-09-754261-g0001.jpg
F1
A timeline with relevant data from the patient episode of care is shown in Figure 1.
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.
fped-09-754261-g0002.jpg
PMC8634650_03_fped-09-754261-g0002.jpg
F2
NACC1 (GenBank NM_052876_3), as shown in Figure 2. Now, the child regularly goes to the hospital for rehabilitation training (once a month).