Limb-Girdle Congenital Myasthenic Syndrome in a Chinese Family with Novel Mutations in MUSK Gene and Literature Review

The congenital myasthenic syndromes (CMS) are a diverse group of genetic disorders caused by abnormal signal transmission at the motor endplate by one or more specific mechanisms resulting in fatigable weakness [1]. Initially, CMS were classified according to the location of the mutant protein as presynaptic, synaptic basal lamina-associated and post synaptic. The prominent features of this pathological condition are exercise-induced weakness and fatigability, usually presenting from birth to childhood.

Source: Clinical Neurology and Neurosurgery - August 22, 2016 Category: Neurosurgery Authors: Xinghua Luan, Wotu Tian, Li Cao Source Type: research