|
KMID : 0359720210390030219
|
|
Journal of the Korean Neurological Association
2021 Volume.39 No. 3 p.219 ~ p.221
|
|
|
Congenital Myasthenic Syndrome Related to CHRNA1 Variant
|
|
Ahn June-Woo
Hwang Su-Keong
Kim Jae-Hyung
Jung Hoon
Park Jin-Sung
|
|
|
Abstract
|
|
|
|
Congenital myasthenic syndromes are a genetically and clinically heterogeneous group of neuromuscular disorders linked by abnormal signal transmission at the motor endplate caused by various genetic defects. Major clinical symptoms include weakness and fatigue during the first years of life but patients may also present with hypotonia, facial weakness, swallowing difficulties, respiratory dysfunction, ptosis and ophthalmoparesis. Here we report a 10-year-old boy who presented with mild developmental delay and bilateral ptosis caused by a frameshift mutation in the CHRNA1 gene that co-segregated within the family, and finally diagnosed as autosomal dominant congenital myasthenic syndrome.
|
|
|
KEYWORD
|
|
|
Congenital myasthenic syndromes, Genes, Phenotype, Blepharoptosis
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|