Early retinal involvement in mitochondrial myopathy with mitochondrial DNA deletion.


BACKGROUND Mitochondrial DNA (mtDNA) deletions have been reported in types of mitochondrial myopathy, including Kearns-Sayre syndrome (KSS). We examined mtDNA, skeletal muscle findings, and retinal electrophysiologic function in a patient believed to have incomplete KSS with ptosis and characteristic (so called salt and pepper) retinopathy, but without… (More)


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