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      A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia 

      Mavillard, Fabiola; Guerra Castellano, Alejandra; Guerrero Gómez, David; Rivas, Eloy; Cantero, Gloria; Servián Morilla, Emilia; Folland, Chiara; Ravenscroft, Gianina; Martín, Miguel A.; Miranda Vizuete, Antonio; Cabrera Serrano, Macarena; Díaz Moreno, Irene; Paradas, Carmen (Elsevier B.V., 2024-10)
      Cytochrome-c oxidase (COX) is part of the mitochondrial complex IV (CIV). COX deficiency is usually associated with tRNA ...