复杂的性四肢4型的中国队列中的临床和遗传特征

Li Yao1,2, Yuwen Cao1,3, Chao Zhang2

  • 1Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Clinical genetics
|February 25, 2024
PubMed
概括

由SPAST突变引起的复杂遗传性性四肢类型4 (SPG4) 现型罕见,但存在各种神经缺陷. 这项研究详细介绍了20个复杂的SPG4病例,确定了新的突变和基因型-表型相关性.