MITOMAP References for Variant G12294A at 12294

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PMID Reference
14581685 Pulkes, T., Liolitsa, D., Nelson, I. P., Hanna, M. G. (2003) Classical mitochondrial phenotypes without mtDNA mutations: The possible role of nuclear genes Neurology . 61 (8): 1144-1147 .
29052516 Soldath, P., Madsen, K. L., Buch, A. E., Duno, M., Wibrand, F., Vissing, J. (2017) Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G >A mutation in the MT-TL2 gene: a case report BMC Musculoskeletal Disorders . 18 (1): 419 .