New insights into the phenotype of FARS2 deficiency

Mutations in FARS2 are known to cause dysfunction of mitochondrial translation due to deficient aminoacylation of the mitochondrial phenylalanine tRNA. Here, we report three novel mutations in FARS2 found in two patients in a compound heterozygous state. The missense mutation c.1082C > T (p.Pro36...

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Detalles Bibliográficos
Autores principales: Vantroys, Elise, Larson, Austin, Friederich, Marisa, Knight, Kaz, Swanson, Michael A., Powell, Christopher A., Smet, Joél, Vergult, Sarah, De Paepe, Boel, Seneca, Sara, Roeyers, Herbert, Menten, Björn, Minczuk, Michal, Vanlander, Arnaud, Van Hove, Johan, Van Coster, Rudy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5734183/
https://www.ncbi.nlm.nih.gov/pubmed/29126765
http://dx.doi.org/10.1016/j.ymgme.2017.10.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5734183/
https://www.ncbi.nlm.nih.gov/pubmed/29126765
http://dx.doi.org/10.1016/j.ymgme.2017.10.004

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