Title: | DGAT2 Mutation in a Family with Autosomal Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease |
Journal : | Human mutation, 37, 5 |
Authors: | Hong YB, Author ; Kang J ; Kim JH ; Lee J ; Kwak G ; Hyun YS ; Nam SH ; Hong HD ; Choi YR ; Jung SC ; Koo H ; Lee JE ; Choi BO ; Chung KW |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 473 |
Languages: | English |
Keywords : | acyltransferases ; axonal forms of CMT ; case studies ; clinical presentation ; CMT2 autosomal dominant form ; DGAT2 gene ; diagnosis ; electrodiagnosis ; Korea ; muscle wasting ; physiopathology ; triglycerides ; Western blot ; zebrafish |
Keywords: | Charcot-Marie-Tooth disease;DGAT2;axonal neuropathy;exome;zebrafish; |
Pubmed / DOI : | DOI : 10.1002/humu.22959 / Pubmed : 26786738 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/26786738 |