mitochondria diary

ミトコンドリア病の治療法研究開発のための学術情報収集とシェア

m. 9176T> C 変異が皮質の関与を伴う成人発症リー症候群


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[PDF] Adult-onset Leigh syndrome due to m. 9176T> C mutation with cortical involvement

 

H Lee, M Lee, JH Lee - Ann Clin Neurophysiol, 2022

 

… helpful in various mitochondrial diseases.We conducted thorough testing to
detect mutations of the genes related to mitochondrial components, including not
only the well-known mutation but also all the mitochondrial and nuclear DNA that …

 

 

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m. 9176T> C変異が皮質の関与を伴う成人発症リー症候群
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