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Article

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

Chinese medical journal - 5 Jul 2018

Ban Rui, Guo Jun-Hong, Pu Chuan-Qiang, Shi Qiang, Liu Hua-Xu, Zhang Yu-Tong

Abstract excerpt

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 (tRNAGlu) gene has previously been associated with maternally inherited diabetes and deafness. However, the association between MERRF and...

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Identifiers

PMID: 29941710
DOI: 10.4103/0366-6999.235120
PMCID: PMC6032686

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A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient.PMID 29941710Read ↗

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