Abstract
The reported cases showed clinical, biochemical, histopathological, and molecular features lending support to the hypothesis of a pathogenic effect of the detected mutations. Case 1 was a neonatal presentation who showed multiple mitochondrial respiratory chain enzyme defects in muscle associated with a new homoplasmic m.5514A > G transition in the tRNATrp gene. Case 2 was a late infantile presentation who also showed mitochondrial respiratory chain enzyme deficiencies in muscle together with a new m.1643A > G tRNAVal mutation in homoplasmy. Case 3 showed a MERRF phenotype presented in childhood associated with the once previously reported m.15923A > G mutation in heteroplasmy in all the tissues studied.
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Acknowledgments
The work was supported by grants PI080663, PI080264, and PI1000662 from the Instituto de Salud Carlos III (ISCIII), Ministry of Science and Innovation (MICIN), Spain. M.OC, S.E, E.LG, and R.M are supported by CIBERER. R.A is supported by the program Intensificación de la Actividad Investigadora, of the ISCIII-MICIN. CIBERER is an initiative from ISCIII.
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del Mar O’Callaghan, M., Emperador, S., López-Gallardo, E. et al. New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. Neurogenetics 13, 245–250 (2012). https://doi.org/10.1007/s10048-012-0322-0
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DOI: https://doi.org/10.1007/s10048-012-0322-0