Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family

• Main Authors: Dandan Yan (Author), Shaopei Chen (Author), Fengying Cai (Author), Jianbo Shu (Author), Xiufang Zhi (Author), Jie Zheng (Author), Chunhua Zhang (Author), Dong Li (Author), Chunquan Cai (Author)
• Format: Bog
• Udgivet: Frontiers Media S.A., 2022-02-01T00:00:00Z.
• Fag: article
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BackgroundThe serine active site-containing protein 1 (SERAC1) biallelic variant usually causes MEGDEL syndrome, clinically characterized by increased excretion of 3-methylglutaconic in the urine, muscle hypotonia, sensorineural deafness, and Leigh-like lesions on brain MRI scans. In this study, we...