Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy

Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy

Abstract Repeat expansions cause at least 50 hereditary disorders, including Friedreich ataxia and other diseases known to cause mitochondrial dysfunction. We identified a patient with NAXE-related mitochondrial encephalopathy and novel biallelic GGGCC repeat expansion as long as ~200 repeats in the...

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Main Authors: Kokoro Ozaki, Yukiko Yatsuka, Yoshinobu Oyazato, Atsushi Nishiyama, Kazuhiro R. Nitta, Yoshihito Kishita, Takuya Fushimi, Masaru Shimura, Shohei Noma, Yohei Sugiyama, Michihira Tagami, Moe Fukunaga, Hiroko Kinoshita, Tomoko Hirata, Wataru Suda, Yasuhiro Murakawa, Piero Carninci, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Format: Article
Language:English
Published: Nature Portfolio 2024-10-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-024-00429-5
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https://doi.org/10.1038/s41525-024-00429-5

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