R54C mutation of NOTCH3 gene in the first Rungus family with CADASIL

• Main Authors: Lim, Kheng Seang, Ai-HueyTan, Lim, Chun Shen, Chua, Kek Heng, Lee, Ping Chin, Norlisah Ramli, Giri Shan Rajahram, Fatimah Tina Hussin, Kum, Thong Wong, Meenakshi Bhattacharjee, Ng, Ching Ching
• Format: Article
• Language: English; English
• Published: Public Library Science 2015
• Subjects: QH Natural history
• Online Access: https://eprints.ums.edu.my/id/eprint/21418/1/R54C%20mutation%20of%20NOTCH3%20gene%20in%20the%20first%20Rungus%20family%20with%20CADASIL.pdf; https://eprints.ums.edu.my/id/eprint/21418/7/R54C%20mutation%20of%20NOTCH3%20gene%20in%20the%20first%20Rungus%20family%20with%20CADASIL.pdf; https://eprints.ums.edu.my/id/eprint/21418/; https://www.doi.org/10.1371/journal.pone.013547

Cerebral autosomal dominant arteriopathy with subcortical infarcts andleukoencephalopathy (CADASIL) is a rare hereditary stroke caused by mutations in NOTCH3 gene.We report the first case of CADASIL in an indigenous Rungus(Kadazan-Dusun) family in Kudat, Sabah, Malaysia confirmed by a R54C (c.160C&g...