A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42) by Lin Pengfei, Li Jianwei, Liu Qiji, Mao Fei, Li Jisheng, Qiu Rongfang, Hu Huili, Song Yang, Yang Yang, Gao Guimin, Yan Chuanzhu, Yang Wanling, Shao Changshun, Gong Yaoqin in American journal of human genetics (2008).

[PMID: 19061983] PubMed

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