A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report

• Hauptverfasser: Qin Wang (Verfasst von), Jingxin Yang (Verfasst von), Yang Liu (Verfasst von), Xingping Li (Verfasst von), Fuwei Luo (Verfasst von), Jiansheng Xie (Verfasst von)
• Format: Buch
• Veröffentlicht: BMC, 2018-11-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

Abstract Background X-linked creatine transporter deficiency (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe speech impairment, seizures and behavioral problems. Mutations in the creatine transporter gene SLC6A8, a member of the solute-carrier...