title: [Differential congenital myasthenia syndrome diagnosis].
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).
authors.affiliation: Neurologische Klinik, Charité, Berlin. simone.spuler@charite.de
authors.forename: S
authors.initials: S
authors.lastname: Spuler
authors.forename: T-N
authors.initials: TN
authors.lastname: Lehmann
authors.forename: A G
authors.initials: AG
authors.lastname: Engel
mesh_terms: D000328:Adult; D001706:Biopsy; D002872:Chromosome Deletion; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009460:Neurologic Examination; D010446:Peptide Fragments / Q000235:genetics; D011950:Receptors, Cholinergic / Q000235:genetics
chemical_list: D010446:Peptide Fragments; D011950:Receptors, Cholinergic