GCG repeats and phenotype in oculopharyngeal muscular dystrophy.
Short GCG repeat expansions in the PABP2 gene were recently shown to cause oculopharyngeal muscular dystrophy (OPMD) in French-Canadian and Italian pedigrees. We diagnosed OPMD in 16 German patients by the detection of GCG repeat expansions, confirming genetic homogeneity. Myopathic and neurogenic changes were found in skeletal muscle biopsies. Age of onset and severity of disease were not correlated with the number of repeats.
Müller
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T
Klinik und Poliklinik für Neurologie, Martin-Luther-Universität, Ernst-Grube-Str. 40, D-06097 Halle, Germany. tobias.mueller@medizin.unihalle.de
Schröder
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Zierz
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D017668:Age of Onset; D000368:Aged; D001706:Biopsy; D001763:Blepharoptosis / Q000209:etiology; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D004252:DNA Mutational Analysis; D003680:Deglutition Disorders / Q000209:etiology; D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D005799:Genes, Dominant; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000175:diagnosis; D018908:Muscle Weakness / Q000209:etiology; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D009157:Myasthenia Gravis / Q000175:diagnosis; D010641:Phenotype; D039102:Poly(A)-Binding Proteins; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
D039102:Poly(A)-Binding Proteins; D016601:RNA-Binding Proteins