A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon
详细信息 查看全文
- 作者：Ay艧e Kaç ; ar Bayrama ; draysebayram@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Hü ; seyin Pera ; huseyinper@yahoo.com" class="auth_mail" title="E-mail the corresponding author ; Jennifer Quonb ; c ; d ; Jennifer.quon@yale.edu" class="auth_mail" title="E-mail the corresponding author ; Mehmet Canpolata ; drmehmetcanpolat@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Ege Ü ; lgenb ; c ; d ; egeulgen@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Hakk谋 Do臒ane ; doganh@erciyes.edu.tr" class="auth_mail" title="E-mail the corresponding author ; Hakan Gumusa ; hakgumus33@yahoo.com" class="auth_mail" title="E-mail the corresponding author ; Sefer Kumandasa ; skumandas@hotmail.com" class="auth_mail" title="E-mail the corresponding author ; Nurettin Bayramf ; drnbayram@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Kaya Bilguvarg ; kaya.bilguvar@yale.edu" class="auth_mail" title="E-mail the corresponding author ; Ahmet Okay Ç ; a臒layanb ; c ; d ; okaycaglayan@yahoo.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：KIF21A ; Marcus Gunn jaw-winking phenomenon ; CFEOM1
- 刊名：European Journal of Paediatric Neurology
- 出版年：2015
- 出版时间：November 2015
- 年：2015
- 卷：19
- 期：6
- 页码：743-746
- 全文大小：476 K
文摘
- •
Congenital fibrosis of the extraocular muscles (CFEOM) is a rare syndrome characterized by congenital restrictive ophthalmoplegia.
- •
We describe the clinical and genetic findings in a pediatric patient with CFEOM and Marcus Gunn jaw-winking phenomenon (MG).
- •
Mutations in KIF21A have been shown to cause CFEOM1, and several authors have reported the coexistence of CFEOM1 and MG.
- •
The aberrant innervation between developing cranial nerves suggests a role for KIF21A in axonal development.