MITOMAP References for RNA Mutation G14685A

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Index PMID Date Reference
1 23334599 2013 Lax, N. Z., Gnanapavan, S., Dowson, S. J., Alston, C. L., He, L., Polvikoski, T. M., Jaros, E., O'Donovan, D. G., Yarham, J. W., Turnbull, D. M., Dean, A. F., Taylor, R. W. (2013) Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study Journal of Neuropathology and Experimental Neurology . 72 (2): 164-175 .