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

• मुख्य लेखकों: Hande Gazeteci Tekin (लेखक), Sanem Yılmaz (लेखक), Gül Aktan (लेखक), Sarenur Gökben (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Galenos Yayinevi, 2019-12-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...