Congenital myasthenic syndromes are relatively rare inherited disorders arising from various defects of the neuromuscular transmission. The majority of congenital myasthenic syndromes are inherited as autosomal recessive traits due to loss-of-function mutations of the AChR subunit genes or the ColQ-gene. This report summarises data of the genetic analysis of a common mutation, e1267delG in exon 12 of the AChR e subunit gene in 66 congenital myasthenic syndrome patients from 46 non-related families carried out in our laboratory. All patients were clinically characterised as sporadic or autosomal recessive congenital myasthenic syndrome. All e1267delG families were of Romani (Gypsy) and/or South Eastern European origin. Phenotype analysis revealed a uniform pattern of clinical features including bilateral ptosis, mild to moderate fatigable weakness of ocular, facial, bulbar and limb muscles, positive response to anticholinesterase treatment and a benign natural course of the disease. Genotype analysis was carried out previously and indicated a common ancestor (founder). We conclude that the mutation e1267delG might be the most frequent cause of congenital myasthenic syndrome in patients of Romani (Gypsy) ethnic origin.
|Number of pages||7|
|Publication status||Published - Dec 1 2001|
- Acetylcholine receptor e-subunit
- Congenital myasthenic syndrome
- Molecular genetic study of Romani population
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine