COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.

ABSTRACT:

Background

Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholinesterase are responsible for recessive forms of synaptic congenital myasthenic syndromes with end plate acetylcholinesterase deficiency. Clinical presentation includes ptosis, ophthalmoparesis, and progressive weakness with onset at birth or early infancy.

Methods

We followed 26 patients with COLQ-CMS over a mean period of 9 years (ranging from 3 to 213 months) and reported their clinical features, electrophysiologic findings, genetic characteristics, and therapeutic management.

Results

In our population, the onset of symptoms ranged from birth to 15 ye

SUBMITTER: Hesami O 

PROVIDER: S-EPMC10935773 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature