Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54

• Main Authors: Xin Xu (Author), Fen Lu (Author), Senjie Du (Author), Xiaoke Zhao (Author), Hongying Li (Author), Li Zhang (Author), Jian Tang (Author)
• 格式: 圖書
• 出版: Frontiers Media S.A., 2022-08-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

BackgroundSpastic paraplegia type 54 (SPG54) is a rare inherited autosomal recessive disorder, and a complex hereditary spastic paraplegia (HSP) caused by mutations in the phospholipase DDHD2 gene. SPG54 is characterized by early onset of spastic paraplegia, intellectual disability and dysplasia of...