Title: | A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like |
Journal : | BMC Medical Genetics, 18, 1 |
Authors: | Chen Z, Author ; Ren Z ; Mei W ; Ma Q ; Shi Y ; Zhang Y ; Li S ; Xiang L ; Zhang J |
Material Type: | Article |
Publication Date: | 2017 |
Languages: | English |
Keywords : | case studies ; clinical presentation ; Emery-Dreifuss muscular dystrophy ; genetic mutations ; MRI ; muscle histopathology ; SYNE1 gene |
Keywords: | Clinical manifestations;Emery-Dreifuss muscular dystrophy;Gly2304Arg mutation;SYNE1 gene; |
Pubmed / DOI : | DOI : 10.1186/s12881-017-0424-5 / Pubmed : 28583108 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28583108 |