Biochim Biophys Acta Mol Basis Dis 2018 06 28;1864(6 Pt A):2131-2142. Epub 2018 Mar 28.
Avantea, Laboratory of Reproductive Technologies, Via Porcellasco 7/f, Cremona 26100, Italy; Dept. of Veterinary Medical Sciences, University of Bologna, Via Tolara di Sopra 50, 40064 Ozzano dell'Emilia, BO, Italy. Electronic address:
Leigh syndrome (LS) associated with cytochrome c oxidase (COX) deficiency is an early onset, fatal mitochondrial encephalopathy, leading to multiple neurological failure and eventually death, usually in the first decade of life. Mutations in SURF1, a nuclear gene encoding a mitochondrial protein involved in COX assembly, are among the most common causes of LS. LS patients display severe, isolated COX deficiency in all tissues, including cultured fibroblasts and skeletal muscle. Read More