Title: | A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement |
Journal : | Neuromuscular disorders : NMD, 27, 10 |
Authors: | Kondo D, Author ; Shinoda K ; Yamashita KI ; Yamasaki R ; Hashiguchi A ; Takashima H ; Kira JI |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 959 |
Languages: | English |
Keywords : | adulthood ; case studies ; Charcot-Marie-Tooth disease, demyelinating, autosomal recessive (CMT4) ; consanguinity ; cranial nerves ; genetic mutations ; male |
Keywords: | CMT4H;Charcot–Marie–Tooth;Cranial nerve;FGD4;Ophthalmoplegia; |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2017.07.011 / Pubmed : 28847448 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28847448 |