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Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
John P Kemp, Paul M Smith, Angela Pyle, Vivienne CM Neeve, Helen AL Tuppen, Ulrike Schara, Beril Talim, Haluk Topaloglu, Elke Holinski-Feder, Angela Abicht, Birgit Czermin, Hanns Lochmüller, Robert McFarland, Patrick F Chinnery, Zofia MA Chrzanowska-Lightowlers, Robert N Lightowlers, Robert W Taylor, Rita Horvath
Mar 07, 2019
Mutations in several mitochondrial DNA and nuclear genes involved in mitochondrial protein synthesis have recently been reported in combined respiratory chain deficiency, indicating a generalized defect in mitochondrial...