PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan

• Main Authors: Noguchi, Yoriko, Bo, Ryosuke, Nishio, Hisahide, Matsumoto, Hisayuki, Matsui, Keiji, Yano, Yoshihiko, Sugawara, Masami, Ueda, Go, Wijaya, Yogik Onky Silvana, Niba, Emma Tabe Eko, Shinohara, Masakazu, Bouike, Yoshihiro, Takeuchi, Atsuko, Okamoto, Kentaro, Saito, Toshio, Shimomura, Hideki, Lee, Tomoko, Takeshima, Yasuhiro, Iijima, Kazumoto, Nozu, Kandai, Awano, Hiroyuki
• Format: Article PeerReviewed
• Language: English
• Published: MDPI 2022
• Subjects: Paediatrics
• Online Access: https://repository.ugm.ac.id/283795/1/genes-13-02110-v3.pdf; https://repository.ugm.ac.id/283795/; https://www.scopus.com/
• Institution: Universitas Gadjah Mada

Spinal muscular atrophy (SMA) is a common devastating neuromuscular disorder, usually involving homozygous deletion of the SMN1 gene. Newly developed drugs can improve the motor functions of infants with SMA when treated in the early stage. To ensure early diagnosis, newborn screening for SMA (SMA-N...