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Journal Article

Kongenitales Myasthenie-Syndrom bei einer 18-jährigen Kroatin durch Homozygotie für die 1267delG-Mutation im Gen für die ε -Untereinheit des Azetylcholinrezeptors

MPS-Authors

Kalischewski,  P
Max Planck Institute of Psychiatry, Max Planck Society;

Kraner,  S
Max Planck Institute of Psychiatry, Max Planck Society;

Reuter,  M
Max Planck Institute of Psychiatry, Max Planck Society;

Köhler,  W
Max Planck Institute of Psychiatry, Max Planck Society;

Steinlein,  O
Max Planck Institute of Psychiatry, Max Planck Society;

Sieb,  J
Max Planck Institute of Psychiatry, Max Planck Society;

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Citation

Kalischewski, P., Kraner, S., Reuter, M., Köhler, W., Steinlein, O., & Sieb, J. (2002). Kongenitales Myasthenie-Syndrom bei einer 18-jährigen Kroatin durch Homozygotie für die 1267delG-Mutation im Gen für die ε -Untereinheit des Azetylcholinrezeptors. Aktuelle Neurologie, 29(6), 298-300.


Cite as: http://hdl.handle.net/11858/00-001M-0000-000E-A19D-F
Abstract
Congenital myasthenic syndromes are extremely rare disorders. We report the case of an 18-year-old Croatian woman with homozygosity of the 1267delG mutation of the epsilon acetylcholine receptor subunit gene. She showed limb-girdle weakness accompanied with increased fatigability and a nearly complete external ophthalmoplegia. The therapeutic effect of pyridostigmine was relatively poor. The pathological mechanisms of acetylcholine receptor subunit mutations are discussed.