Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes

标题
Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes
作者
关键词
Mitochondrial disease, POLG, Encephalopathy, Seizures, Status epilepticus, Stroke-like episode, mtDNA
出版物
MITOCHONDRION
Volume 48, Issue -, Pages 78-83
出版商
Elsevier BV
发表日期
2019-08-16
DOI
10.1016/j.mito.2019.08.003

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