Reanalysis of Exome Data Identifies Novel <i>SLC25A46</i> Variants Associated with Leigh Syndrome

Reanalysis of Exome Data Identifies Novel <i>SLC25A46</i> Variants Associated with Leigh Syndrome

<i>SLC25A46</i> (solute carrier family 25 member 46) mutations have been linked to various neurological diseases with recessive inheritance, including Leigh syndrome, optic atrophy, and lethal congenital pontocerebellar hypoplasia. SLC25A46 is expressed in the outer membrane of mitochond...

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Bibliographic Details
Main Authors: Qifei Li, Jill A. Madden, Jasmine Lin, Jiahai Shi, Samantha M. Rosen, Klaus Schmitz-Abe, Pankaj B. Agrawal
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:Journal of Personalized Medicine
Subjects:
<i>SLC25A46</i>
mitochondria
optic atrophy
Leigh syndrome
reanalysis
Online Access:https://www.mdpi.com/2075-4426/11/12/1277

Internet

https://www.mdpi.com/2075-4426/11/12/1277

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