Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic

Mitochondrial aminoacyl‐tRNA synthetases play a major role in protein translation, synthesis, and oxidative phosphorylation. We reviewed all patients diagnosed with mitochondrial aminoacyl‐tRNA synthetase deficiencies diagnosed in a single neurometabolic clinic. We report five patients with mitochon...

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Detalles Bibliográficos
Autores principales: Al Balushi, Aaisha, Matviychuk, Diana, Jobling, Rebekah, Salomons, Gajja S., Blaser, Susan, Mercimek‐Andrews, Saadet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012735/
https://www.ncbi.nlm.nih.gov/pubmed/32071833
http://dx.doi.org/10.1002/jmd2.12079

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