Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case
Sialidosis are autosomal recessive inherited disorders caused by a mutation on the NEU1 gene. In type 1 sialidosis, a “cherry-red spot” can be observed in fundoscopic examinations. In this study, a woman aged 37 years without “cherry-red spot” on ophthalmologic examination is reported to draw attent...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2016-06-01
|
| Series: | Türk Nöroloji Dergisi |
| Subjects: | |
| Online Access: | http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-32650 |