Biallelic GGGCC Expansion: A New Short Tandem Repeat leading to NAXE-Related Mitochondrial Encephalopathy (IMAGE)

Juntendo University Research Promotion Center

Biallelic GGGCC Expansion: A New Short Tandem Repeat leading to NAXE-Related Mitochondrial Encephalopathy

Caption

Biallelic GGGCC repeat expansion in the promoter region of the NAXE gene has been found to be linked to mitochondrial dysfunction leading to mitochondrial encephalopathy

Credit

Yasushi Okazaki from Juntendo University, Japan

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