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Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis

29 Jan 2015

Abstract excerpt

Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. Recognition of...

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PMID: 25636970
DOI: 10.1093/brain/awu397

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