Differenzialdiagnostik eines kongenitalen myasthenen Syndroms

Translated title of the contribution: Differential diagnosis of congenital myasthenic syndromes

S. Spuler, T. N. Lehmann, A. G. Engel

Research output: Contribution to journalArticle

1 Scopus citations

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 (ε1276delG).

Translated title of the contributionDifferential diagnosis of congenital myasthenic syndromes
Original languageGerman
Pages (from-to)141-144
Number of pages4
JournalNervenarzt
Volume75
Issue number2
DOIs
StatePublished - Feb 1 2004

Keywords

  • Acetylcholine esterase inhibitor
  • Congenital myasthenic syndrome
  • Congenital myopathy
  • Mitochondriopathy
  • Ophthalmoplegia

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology
  • Psychiatry and Mental health

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