Article
A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with Prader Willi syndrome.
Journal of child neurology - 1 Mar 2015
Yiş Uluç, Ezgü Fatih Süheyl, Karakaya Pakize, Polat İpek, Arslan Nur, Çankaya Tufan, Bozkaya Özlem Giray, Kurul Semra Hız
Abstract excerpt
In recent years, it has been suggested that defects in energy metabolism may accompany Prader Willi syndrome. Mutations in the mitochondrial cytochrome b gene have been commonly associated isolated mitochondrial myopathy and exercise intolerance, rarely with multisystem disorders. The authors describe a novel mutation (mt. 15209T>C) in mitochondrial cytochrome b gene in a 2-year-old girl with Prader-Willi...
Topics
- Cytochromes b
- DNA, Mitochondrial
- Female
- Humans
- Infant
- Mutation
- Prader-Willi Syndrome