Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia
Cheng‐Tsung Hsiao,
Tzu‐Yun Tsai,
Ting‐Yi Shen
et al.
Abstract:ObjectiveTFG mutations have previously been implicated in autosomal recessive hereditary spastic paraplegia (HSP), also known as SPG57. This study aimed to investigate the clinical and molecular features of TFG mutations in a Taiwanese HSP cohort.MethodsGenetic analysis of TFG was conducted in 242 unrelated Taiwanese HSP patients using a targeted resequencing panel covering the entire coding regions of TFG. Functional assays were performed using an in vitro cell model to assess the impact of TFG variants on pr… Show more
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