A pseudo‐homozygous missense variant and Alu‐mediated exon 5 deletion in FARS2 causing spastic paraplegia 77

Abstract FARS2‐associated hereditary spastic paraplegia, later onset spastic paraplegia type 77, is a rarely neurodegenerative disease. Here, we reported two affected siblings in an autosomal recessive spastic paraplegia family with a pseudo‐homozygous missense variant and Alu‐mediated exon 5 deleti...

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Bibliografiset tiedot

Päätekijät:	Shu‐Huai Lin, Jun‐Hao Xie, Jun‐Yi Jiang, Xin‐Yu Yan, Chao‐Yin Hong, Wan‐Jin Chen, Ning Wang, Xiang Lin
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	Wiley 2024-11-01
Sarja:	Annals of Clinical and Translational Neurology
Linkit:	https://doi.org/10.1002/acn3.52195
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