Congenital Myasthenic Syndrome Related to CHRNA1 Variant
| العنوان: | Congenital Myasthenic Syndrome Related to CHRNA1 Variant |
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| المؤلفون: | Hoon Jung, Su-Keong Hwang, Jae-Hyung Kim, Jin-Sung Park, June Woo Ahn |
| المصدر: | Journal of the Korean Neurological Association. 39:219-221 |
| بيانات النشر: | Korean Neurological Association, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Pediatrics, medicine.medical_specialty, business.industry, Medicine, Congenital myasthenic syndrome, business, medicine.disease |
| الوصف: | Congenital myasthenic syndromes are a genetically and clinically heterogeneous group of neuromuscular disorders linked by abnormal signal transmission at the motor endplate caused by various genetic defects. Major clinical symptoms include weakness and fatigue during the first years of life but patients may also present with hypotonia, facial weakness, swallowing difficulties, respiratory dysfunction, ptosis and ophthalmoparesis. Here we report a 10-year-old boy who presented with mild developmental delay and bilateral ptosis caused by a frameshift mutation in the CHRNA1 gene that co-segregated within the family, and finally diagnosed as autosomal dominant congenital myasthenic syndrome. |
| تدمد: | 2288-985X 1225-7044 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::ce9ee9176a5ffcaf3156ae9f2da917bb https://doi.org/10.17340/jkna.2021.3.20 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi...........ce9ee9176a5ffcaf3156ae9f2da917bb |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 2288985X 12257044 |
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