Title: | An in-frame deletion in BICD2 associated with a non-progressive form of SMALED |
Journal : | Clinical neurology and neurosurgery, 166 |
Authors: | Trimouille A, Author ; Obre É ; Banneau G ; Durr A ; Stevanin G ; Clot F ; Pennamen P ; Perez JT ; Bailly-Scappaticci C ; Rouanet M ; Delleci C ; Sole G ; Mathis S ; Goizet C |
Material Type: | Article |
Publication Date: | 2018 |
Languages: | English |
Keywords : | BICD2 gene ; case studies ; clinical presentation ; genetic analysis ; genetic deletions ; genetic diagnosis ; genetic mutations ; MRI ; SMALED2 |
Keywords: | BICD2;Neuromuscular disorder;Panel sequencing;SMALED2; |
Pubmed / DOI : | DOI : 10.1016/j.clineuro.2018.01.013 / Pubmed : 29353221 |
N° Profil MNM : | 2018012 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29353221 |