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Article

Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.

Journal of medical genetics - 21 Mar 2024

Xu Ling, Wang Yaru, Wang Wenqing, Zhang Rui, Zhao Dandan, Yun Yan, Liu Fuchen, Zhao Yuying, Yan Chuanzhu, Lin Pengfei

Abstract excerpt

BACKGROUND: Mutations in the tropomyosin receptor kinase fused (TFG) gene are associated with various neurological disorders, including autosomal recessive hereditary spastic paraplegia (HSP), autosomal dominant hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) and autosomal dominant type of Charcot-Marie-Tooth disease type 2. METHODS: Whole genome sequencing and whole-exome...

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PMID: 37890998
DOI: 10.1136/jmg-2023-109485

Genes

TFG

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