A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient

BACKGROUND: Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is characterized by myoclonus, generalized epilepsy, cerebellar ataxia, and ragged red fibers (RRFs) in the muscle. T-to-C transition at nucleotide position 14709 in the mitochondrial tRNA glutamic acid (tRNA(Glu)) gene has previ...

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Detalles Bibliográficos
Autores principales: Ban, Rui, Guo, Jun-Hong, Pu, Chuan-Qiang, Shi, Qiang, Liu, Hua-Xu, Zhang, Yu-Tong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032686/
https://www.ncbi.nlm.nih.gov/pubmed/29941710
http://dx.doi.org/10.4103/0366-6999.235120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032686/
https://www.ncbi.nlm.nih.gov/pubmed/29941710
http://dx.doi.org/10.4103/0366-6999.235120

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