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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
Autores principales:	Simoncini, C., Montano, V., Alì, G., Costa, R., Siciliano, G., Mancuso, M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311237/ https://www.ncbi.nlm.nih.gov/pubmed/30643656 http://dx.doi.org/10.1155/2018/8406712

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