Broadening the Phenotype of M.5703G>A Mutation in Mitochondrial TRNAAsn Gene from Mitochondrial Myopathy to Myoclonic Epilepsy with Ragged Red Fibers Syndrome

Overview

Journal Chin Med J (Engl)

Specialty General Medicine

Date 2019 Mar 22

PMID 30897601

Citations 5

Authors

Jun Fu

Ming-Ming Ma

Mi Pang

Liang Yang

Gang Li

Jia Song

Jie-Wen Zhang

Affiliations

Soon will be listed here.

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Is the MT-TN variant m.5703G>A truly causative for myoclonic epilepsy with ragged red fibers syndrome plus?.

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References

Vives-Bauza C, Del Toro M, Solano A, Montoya J, Andreu A, Roig M . Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA. J Inherit Metab Dis. 2003; 26(5):507-8. DOI: 10.1023/a:1025133629685. View

Altmann J, Buchner B, Nadaj-Pakleza A, Schafer J, Jackson S, Lehmann D . Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry. J Neurol. 2016; 263(5):961-972. DOI: 10.1007/s00415-016-8086-3. View

Ban R, Guo J, Pu C, Shi Q, Liu H, Zhang Y . A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient. Chin Med J (Engl). 2018; 131(13):1569-1574. PMC: 6032686. DOI: 10.4103/0366-6999.235120. View

Su L, Wang Y, Han T, Qiao S, Zang K, Wu H . Antimyoclonic Effect of Levetiracetam and Clonazepam Combined Treatment on Myoclonic Epilepsy with Ragged-Red Fiber Syndrome with m.8344A>G Mutation. Chin Med J (Engl). 2018; 131(20):2433-2438. PMC: 6202596. DOI: 10.4103/0366-6999.243568. View

Moraes C, Ciacci F, Bonilla E, Jansen C, Hirano M, Rao N . Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?. J Clin Invest. 1993; 92(6):2906-15. PMC: 288494. DOI: 10.1172/JCI116913. View