Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants

Abstract Most patients with homozygous or compound heterozygous pathogenic ACO2 variants present with muscular hypotonia features, namely, infantile cerebellar-retinal degeneration. Recently, two studies reported rare familial cases of ACO2 variants presenting as complex hereditary spastic paraplegi...

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Bibliographic Details
Main Authors: Takenori Tozawa, Akira Nishimura, Tamaki Ueno, Akane Shikata, Yoshihiro Taura, Takeshi Yoshida, Naoko Nakagawa, Takahito Wada, Shinji Kosugi, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Tomohiro Chiyonobu
Format: Article
Language:English
Published: Nature Publishing Group 2021-01-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-021-00136-y

Internet

https://doi.org/10.1038/s41439-021-00136-y

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