<italic>De Novo</italic> CHRNE Mutation: Congenital Myasthenic Syndrome

• Glavni autori: Hande Gazeteci Tekin (Autor), Sanem Yılmaz (Autor), Gül Aktan (Autor), Sarenur Gökben (Autor)
• Format: Knjiga
• Izdano: Galenos Yayinevi, 2019-12-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Congenital myasthenic syndromes (CMS) are neuromuscular hereditary diseases with the symptoms of fatigue, weakness, ptosis, ophthalmoparesis and respiratory problems. This disease group is classified as CMS originating from the presynaptic region, synaptic gap and postsynaptic region according to th...