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No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency

✍ Scribed by Béatrice Parfait; Agnès Percheron; Dominique Chretien; Pierre Rustin; Arnold Munnich; Agnès Rötig

Book ID
106136839
Publisher
Springer
Year
1997
Tongue
English
Weight
26 KB
Volume
101
Category
Article
ISSN
0340-6717

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Cytochrome c oxidase biogenesis in a pat
Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene
✍ Marieke J. H. Coenen; Lambert P. van den Heuvel; Cristina Ugalde; Marike ten Bri 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 264 KB 👁 2 views

## Abstract We report a cytochrome __c__ oxidase (COX)–deficient patient, clinically affected with Leigh‐like disease, with a homozygous mutation in the __COX10__ start codon. Two‐dimensional gel electrophoresis showed a decrease of fully assembled COX without the accumulation of partially assemble