Abstract
Congenital myasthenic syndromes (CMS) comprise a group of inherited disorders that impair signal transduction as well as the structural integrity of the neuromuscular junction. Since there are several gene mutations associated with CMS, including the rare GFPT1 gene, the clinical presentation of this condition is quite variable. Importantly, patients with the same genotype can exhibit different clinical features. CMS type 12, as seen in our patient, is characterized by weakness of the limb-girdle muscles, which was anticipated with scoliosis. It is important to note that scoliosis is not generally linked to the GFPT1 mutation, and based on our case, it contributed to a broader and more complex clinical presentation.