Global ETD Search
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Showing 1 to 2 of 2 for “"Oculopharyngeal muscular dystrophy"”.
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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 …
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Myasthenia Gravis mimics: An audit of cases identified at Groote Schuur Hospital over 20 years
… cytopathies, 4 had definite or probable muscular dystrophy (MD), 1 progressive supranuclear palsy and 1 with a multiple sclerosis brainstem relapse. Median age at symptom onset was 10 years for CMS, 18 for mitochondrial cytopathies, 53 for FNS, 58 for the muscular dystrophy cases and 63 …