A late-onset congenital myasthenic syndrome due to a heterozygous DOK7 mutation
Myasthenia Gravis (MG) is an autoimmune disease of the neuromuscular junction (NMJ), with autoantibodies binding proteins in the NMJ detected in ∼85% of the patients. However, 10-15% of MG patients present with no known antibodies [1,2]. Congenital myasthenic syndromes (CMS), in turn, are disorders of the NMJ due to various genetic defects in components essential for NMJ structure and function. Symptoms in CMS patients typically start shor tly after birth or during childhood, with an adult onset being rarer.
Source: Neuromuscular Disorders - Category: Neurology Authors: Paulo Bastos, Raquel Barbosa, Marco Fernandes, Isabel Alonso Tags: Case report Source Type: research