MITOMAP References for Mutation G-A at 8529

Download PMID list

Index PMID Date Reference
1 17954552 2008 Jonckheere, A. I., Hogeveen, M., Nijtmans, L. G., van den Brand, M. A., Janssen, A. J., Diepstra, J. H., van den Brandt, F. C., van den Heuvel, L. P., Hol, F. A., Hofste, T. G., Kapusta, L., Dillmann, U., Shamdeen, M. G., Smeitink, J. A., Rodenburg, R. J. (2008) A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy Journal of Medical Genetics . 45 (3): 129-133 .
2 18620007 2009 Kucharczyk, R., Zick, M., Bietenhader, M., Rak, M., Couplan, E., Blondel, M., Caubet, S. D., di Rago, J. P. (2009) Mitochondrial ATP synthase disorders: molecular mechanisms and the quest for curative therapeutic approaches Biochimica et Biophysica Acta . 1793 (1): 186-199 .