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 syndrome with a clinical history of lactic acidosis attacks, renal sodium loss, hepatopathy, progressive cerebral atrophy, and sudden death. The authors suggest that atypical clinical findings in patients with Prader-Willi syndrome should direct the physician to search for a mitochondrial disease.
CITATION STYLE
Yiş, U., Ezgü, F. S., Karakaya, P., Polat, I., Arslan, N., Çankaya, T., … Kurul, S. H. (2015). A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with prader willi syndrome. Journal of Child Neurology, 30(3), 378–381. https://doi.org/10.1177/0883073814530499
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