A novel pathogenic m.4412G > A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes

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作者： Lim, Albert Z. ^[1] ; Blakely, Emma L. ^[1] ; Baty, Karen ^[2] ; He, Langping ^[1] ; Hopton, Sila ^[3] ; Falkous, Gavin ^[1] ; McWilliam, Kenneth ^[1] ; Cozens, Alison ^[1] ; McFarland, Robert ^[1] ; Taylor, Robert W. ^[1]

作者单位： Newcastle Univ, Inst Neurosci, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England ^[1] NHS Natl Serv Scotland, Inherited Metab Disorders Scotland, Glasgow G2 6QE, Lanark, Scotland ^[2] Royal Hosp Sick Children, Dept Paediat Neurol, Edinburgh EH9 1LF, Midlothian, Scotland ^[3]

关键词 Mitochondrial disease Myopathy Seizures mtDNA variant Basal ganglia changes MTTM

发布时间 2019-12-20

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Mitochondrion

2019年47卷

18-23页

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A novel pathogenic m.4412G > A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes

Mitochondrion

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Mitochondrion

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A novel pathogenic m.4412G > A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes

Mitochondrion

相似文献

Mitochondrion

相关期刊

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