MERRF Syndrome 7
General: Associated with mitochondrial tRNA [Leu(UUR)] A3243G mutation.
Ocular: Optic neuropathy; pigmentary retinopathy, ophthalmoparesis, and ptosis.
Clinical: Mitochondrial encephalomyopathy; lactic acidosis; strokelike episodes.
Hwang JM, Park HW, Kim SJ. Optic neuropathy associated with mitochondrial tRNA[Leu(UUR)] A3243G mutation. Ophthalmic Genet 1997; 18:101-l05.
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