[Chronic progressive external ophthalmoplegia (CPEO); mitochondrial DNA deletion, brain MRI and electrophysiological studies].

Abstract

To evaluate the correlation of clinical symptoms and deletion of mitochondrial DNA (mtDNA) in CPEO, we examined brain MRI, lower limb SSEP and mtDNA in 19 patients (nine men, ten women) with CPEO averaging 44.9 years of age. Of these patients, three had typical Kearns-Sayre syndrome (KSS) as defined by the presence of the invariable triad of CPEO, retinitis… (More)

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