Article
Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosis.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Apr 2005
Okulla Thorsten, Kunz Wolfram S, Klockgether Thomas, Schröder Rolf, Kornblum Cornelia
Abstract excerpt
PURPOSE: To highlight the diagnostic relevance of mitochondrial DNA (mtDNA) mutation analysis in acquired juvenile unilateral upper eyelid ptosis. METHODS: A 13-year-old boy presented with acquired, slowly progressive unilateral ptosis. We performed ophthalmological and neurological examinations, laboratory testing, skeletal muscle biopsy including histological and histochemical investigations, biochemical...
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