Decoding pathogenesis of slow-channel congenital myasthenic syndromes using recombinant expression and mice models.

ABSTRACT: Despite the fact that they are orphan diseases, congenital myasthenic syndromes (CMS) challenge those who suffer from it by causing fatigable muscle weakness, in the most benign cases, to a progressive wasting of muscles that may sentence patients to a wheelchair or even death. Compared to other more common neurological diseases, CMS are rare. Nevertheless, extensive research in CMS is performed in laboratories such as ours. Among the diverse neuromuscular disorders of CMS, we are focusing in the slow-channel congenital myasthenic syndrome (SCS), which is caused by mutations in genes encoding acetylcholine receptor subunits. The study of SCS has evolved from clinical electrophysiological studies to in vitro expression systems and transgenic mice models. The present review evaluates the met

SUBMITTER: Otero-Cruz JD 

PROVIDER: S-EPMC2929179 | biostudies-literature | 2010 Mar

REPOSITORIES: biostudies-literature