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Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome 被引量:2
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作者 Jun Fu Ming-Ming Ma +4 位作者 Mi Pang Liang Yang Gang Li Jia Song Jie-Wen Zhang 《Chinese Medical Journal》 SCIE CAS CSCD 2019年第7期865-867,共3页
To the Editor:Mutations in mitochondrial DNA(mtDNA)cause mitochondrial diseases with multisystem involvement and variable clinical phenotypes.Myoclonic epilepsy with ragged red fiber(MERRF)syndrome is characterized by... To the Editor:Mutations in mitochondrial DNA(mtDNA)cause mitochondrial diseases with multisystem involvement and variable clinical phenotypes.Myoclonic epilepsy with ragged red fiber(MERRF)syndrome is characterized by myoclonus,generalized epilepsy,cerebellar ataxia,and mitochondrial myopathy with ragged red fibers(RRFs).Other features include hearing impairment,psychiatric disorders,and dysarthria. 展开更多
关键词 MITOCHONDRIAL trnaasn gene MITOCHONDRIAL MYOPATHY myoclonic EPILEPSY MITOCHONDRIAL DNA(mtDNA)
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