The Mitochondrial tRNA(Ser(UCN)) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review

Mitochondrial tRNA(Ser(UCN)) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. We describe a novel homoplasmic m.7484A&g...

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Detalles Bibliográficos
Autores principales: Borgione, Eugenia, Lo Giudice, Mariangela, Santa Paola, Sandro, Giuliano, Marika, Di Blasi, Francesco Domenico, Di Stefano, Vincenzo, Lupica, Antonino, Brighina, Filippo, Pettinato, Rosa, Romano, Corrado, Scuderi, Carmela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9963529/
https://www.ncbi.nlm.nih.gov/pubmed/36836911
http://dx.doi.org/10.3390/life13020554

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9963529/
https://www.ncbi.nlm.nih.gov/pubmed/36836911
http://dx.doi.org/10.3390/life13020554

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