Acknowledgments:
This study was supported by a Health and Labor Sciences Research Grant
for Research on Rare and Intractable Diseases and Comprehensive Research
on Disability Health and Welfare from the Ministry of Health, Labour and
Welfare of Japan (S.U. 20FC1048), and a Grant-in-Aid from the Japan
Agency for Medical Research and Development (AMED) (S.U.
20ek0109363h0003). The authors thank the proband and his family members
who participated in this study.