Congenital myasthenic syndromes (CMS) are relatively rare inherited disorders arising from various defects of the neuromuscular transmission. The majority of CMS are inherited as autosomal recessive traits due to loss-of- function mutations of the AChR subunit genes or the ColQ-gene. This report summarizes data of the genetic analysis of the entire AChR ε subunit gene in 62 CMS patients from 52 non-related families, carried out in our laboratory. All patients were clinically characterized as sporadic or autosomal recessive CMS. Sequence analysis of the entire AChR ε subunit gene was carried out in all patients. In 27 families (52%) 12 different recessive mutations of the AChR ε subunit gene were identified as the probable causative gene defect. The mutations are distributed along the entire length of the AChR ε subunit gene. We confirm previous findings that a single mutation (ε1267delG) is found frequently in south-eastern European patients (50%). Our findings indicate that genetic analysis of the ε subunit gene may reveal the underlying genetic defect in a fair proportion of patients, clinically classified as sporadic or autosomal recessive CMS.
|Number of pages||5|
|Publication status||Published - Jan 1 2000|
- Acetylcholine receptor ε-subunit mutation
- Congenital myasthenic syndrome
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine