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Showing 1 to 1 of 1 for “"Okulopharyngeale Muskeldystrophie"”.
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Molekulargenetische Untersuchungen zur okulopharyngealen Muskeldystrophie
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant inherited disease with an estimated European prevalence of 1 per 100,000. OPMD is a late-onset disorder characterized by progressive ptosis, dysphagia and proximal limb weakness. A mutation in the „poly(A) binding protein …