Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants

Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants

Abstract Pathogenic variants in the HIBCH gene cause HIBCH deficiency, leading to mitochondrial disorders associated with valine metabolism. Patients typically present with symptoms such as developmental regression/delay, encephalopathy, hypotonia and dystonia. Brain magnetic resonance imaging (MRI)...

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Bibliografske podrobnosti
Main Authors: Yoshihiro Taura, Takenori Tozawa, Kenichi Isoda, Satori Hirai, Tomohiro Chiyonobu, Naoko Yano, Takahiro Hayashi, Takeshi Yoshida, Tomoko Iehara
Format: Article
Jezik:English
Izdano: Nature Publishing Group 2023-08-01
Serija:Human Genome Variation
Online dostop:https://doi.org/10.1038/s41439-023-00251-y

Internet

https://doi.org/10.1038/s41439-023-00251-y

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