Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome

SLC25A46 (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 mitochondria, where it plays...

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Detalles Bibliográficos
Autores principales: Li, Qifei, Madden, Jill A., Lin, Jasmine, Shi, Jiahai, Rosen, Samantha M., Schmitz-Abe, Klaus, Agrawal, Pankaj B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8703603/
https://www.ncbi.nlm.nih.gov/pubmed/34945750
http://dx.doi.org/10.3390/jpm11121277

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8703603/
https://www.ncbi.nlm.nih.gov/pubmed/34945750
http://dx.doi.org/10.3390/jpm11121277

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