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Differenzialdiagnostik eines kongenitalen myasthenen Syndroms [Differential congenital myasthenia syndrome diagnosis]

Item Type:Article
Title:Differenzialdiagnostik eines kongenitalen myasthenen Syndroms [Differential congenital myasthenia syndrome diagnosis]
Creators Name:Spuler, S. and Lehmann, T.N. and Engel, A.G.
Abstract:Among myopathies and disorders of neuromuscular transmission, the congenital myasthenic syndromes (CMS) are particularly rare. However, because of the available therapeutic options, it is still clinically important to achieve a correct diagnosis in these patients. We report an adult patient with ophthalmoplegia and nonfluctuating limb-girdle syndrome. For almost 20 years, a congenital myopathy or mitochondriopathy had been suspected before CMS was diagnosed caused by an epsilon subunit mutation of the acetylcholine receptor (epsilon1276delG).
Keywords:Acetylcholine Esterase Inhibitor, Congenital Myasthenic Syndrome, Congenital Myopathy , Mitochondriopathy , Ophthalmoplegia
Source:Nervenarzt
ISSN:0028-2804
Publisher:Springer (Germany)
Volume:75
Number:2
Page Range:141-144
Date:February 2004
Official Publication:https://doi.org/10.1007/s00115-003-1614-2
PubMed:View item in PubMed

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