Posts Tagged ‘encefalopatia’

Monday January 09th, 2012

New gene identified whose mutations cause a fatal mitochondrial encephalopathy

L'equip encapçalat per la Dra. Antònia RibesAn article in the American Journal of Human Genetics identifies a new gene whose mutations cause a fatal childhood disease with encephalopathy and pulmonary hypertension, being usual that patients die before 15 months. The team that signed the article is directed by Dr. Antònia Ribes, and comprised by: A. Navarro-Sastre, F. Tort, A. Font, J. García-Villoria and P. Briones, from the Section of Congenital Metabolic Errors – IBC Department of Biochemistry and Molecular Genetics, Hospital Clínic – IDIBAPS of Barcelona.

Read the rest of this entry »

Comments Closed