Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis

Mitochondrial diseases are clinically and genetically heterogeneous disorders due to primary mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). We studied a male infant with severe congenital encephalopathy, peripheral neuropathy, and myopathy. The patient's lactic acidosis and bioch...

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主要な著者: Ferreiro-Barros, Claudia C., Tengan, Célia H., Barros, Mário H., Palenzuela, Lluis, Kanki, Chisaka, Lou, Johanna, Gharaby, Nader El, Shokr, Aly, De Vivo, Darryl C., DiMauro, Salvatore, Hirano, Michio
フォーマット: Artigo
言語:Inglês
出版事項: 2008
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2605845/
https://ncbi.nlm.nih.gov/pubmed/18835491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jns.2008.08.028
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