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RESEARCH GROUPS
Group U701
Programme: Mitochondrial and Neuromuscular Medicine
Lead Researcher: Martí Seves, Ramon Group Members
STAFF MEMBERS: Camara Navarro, Yolanda | Pinos Figueras, Tomas ASSOCIATED MEMBERS: Andreu Periz, Antonio Luis | Brull Cañagueral, Astrid | Carreño Gago, Lidia | Gar-
cía Arumi, Elena | Melia Grimal, María Jesús | Ortega González, Francisco Javier | Torres Torronteras, Javier
Main lines of research
• Mechanisms of pathogenicity of mtDNA structural gene mutations . • Genetic and biochemical study of mitochondrial DNA depletion syndromes: MNGIE, depletion due to
TK2 or dGK deficiency and other . Implications in the control of the nucleotide pool .
• Therapeutic approaches for MNGIE and other mitochondrial DNA depletion syndromes .
• McArdle disease: study of pathomechanisms and potential therapeutic approaches .
• Characterization and study of the pathomechanisms involved in the limb-girdle muscular dystrophhy caused by mutations in the TNPO3 gene (LGMD1F) .
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CIBERER » Annual report 2014
