Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene

Mitochondrial (mt) tRNA (MTT) gene mutations are an important cause of mitochondrial diseases and are associated with a wide range of clinical presentations. Most mutations fall into three mitochondrial tRNAs (tRNAIle, tRNALeu (UUR), and tRNALys) and are responsible for half of the mitochondrial dis...

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Detalles Bibliográficos
Publicado en:Case Rep Neurol Med
Autores principales: Simoncini, C., Montano, V., Alì, G., Costa, R., Siciliano, G., Mancuso, M.
Formato: Artigo
Lenguaje:Inglês
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6311237/
https://ncbi.nlm.nih.gov/pubmed/30643656
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/8406712
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