Article
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
American journal of human genetics - 5 Oct 2012
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
Abstract excerpt
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 deficiencies of multiple mitochondrial respiratory-chain enzymes and defective mitochondrial translation. In this work, we...
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