ePrints

Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene

Lookup NU author(s): Dr Juliane Mueller, Professor Hanns Lochmuller

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.

Abstract

Congenital myasthenic syndromes (CMS) with deficiency of endplate acetylcholinesterase (AChE) are caused by mutations in the synapse specific collagenic tail subunit gene (COLQ) of AChE. We identified a novel missense mutation (T441A) homozygously in three CMS patients from two unrelated German families. The mutation is located in the C-terminal region of the ColQ protein, which initiates assembly of the triple helix, and is essential for insertion of the tail subunit into the basal lamina. Density gradient analysis of AChE extracted from muscle of one of the patients revealed the absence of asymmetric AChE. All patients were characterized by an onset of disease in childhood, exercise-induced proximal weakness, absence of ptosis and ophthalmoparesis, a decremental EMG response, and deterioration in response to anticholinesterase drugs. However, age at onset, disease progression, disease severity, and functional impairment varied considerably among the three patients. As adults, two siblings from one family experience only mild impairment, while the third patient requires a wheelchair for most of the day and assisted ventilation at night.

Publication metadata

Author(s): Muller JS, Petrova S, Kiefer R, Stucka R, Konig C, Baumeister SK, Huebner A, Lochmuller H, Abicht A

Publication type: Article

Publication status: Published

Journal: Neuropediatrics

Year: 2004

Volume: 35

Issue: 3

Pages: 183-189

ISSN (print): 0174-304X

ISSN (electronic): 1439-1899

Publisher: Georg Thieme Verlag

URL: http://dx.doi.org/10.1055/s-2004-820996

DOI: 10.1055/s-2004-820996

Altmetrics

Share