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

• প্রধান লেখক: Hande Gazeteci Tekin (লেখক), Sanem Yılmaz (লেখক), Gül Aktan (লেখক), Sarenur Gökben (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Galenos Yayinevi, 2019-12-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...