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

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

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...

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Bibliographic Details
Main Authors: Hande Gazeteci Tekin, Sanem Yılmaz, Gül Aktan, Sarenur Gökben
Format: Article
Language:English
Published: Galenos Yayinevi 2019-12-01
Series:Journal of Pediatric Research
Subjects:
acetylcholine receptor deficiency
congenital myasthenic syndrome
Online Access: http://jpedres.org/archives/archive-detail/article-preview/ide-novo-i-chrne-mutation-congenital-myasthenic-sy/30607

Internet

http://jpedres.org/archives/archive-detail/article-preview/ide-novo-i-chrne-mutation-congenital-myasthenic-sy/30607

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