Mitochondrial encephalopathy caused by a new biallelic repeat expansion
Peer-Reviewed Publication
Updates every hour. Last Updated: 1-May-2025 11:08 ET (1-May-2025 15:08 GMT/UTC)
Short tandem DNA repeat expansions are known to cause several mitochondrial disorders that most frequently affect the central nervous system. In this study, researchers from Japan evaluated a patient cohort with undiagnosed mitochondrial diseases using long read sequencing and genetic analysis. They identified a three-year-old girl with mitochondrial encephalopathy having biallelic GGGCC repeats in the NAXE promoter region, highlighting the importance of modern technologies in the genetic evaluation of novel repeat expansions.
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