Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation

Defects of mitochondrial protein synthesis are clinically and genetically heterogeneous. We previously described a male infant who was born to consanguineous parents and who presented with severe congenital encephalopathy, peripheral neuropathy, myopathy, and lactic acidosis associated with deficien...

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主要な著者: Garcia-Diaz, Beatriz, Barros, Mario H., Sanna-Cherchi, Simone, Emmanuele, Valentina, Akman, Hasan O., Ferreiro-Barros, Claudia C., Horvath, Rita, Tadesse, Saba, El Gharaby, Nader, DiMauro, Salvatore, De Vivo, Darryl C., Shokr, Aly, Hirano, Michio, Quinzii, Catarina M.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2012
主題:
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オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3484479/
https://ncbi.nlm.nih.gov/pubmed/23022099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.019
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