|
|||||
|
|
Novel splicing dysferlin mutation causing myopathy with intra-familial heterogeneity |
|
| Authors: | Rekik Sabrine Sakka Salma Romdhane Sawsan Ben Amer Yasmine Baba Lehkim Leila Farhat Nouha Mahfoudh Khaireddine Ben Authier François Jérôme Dammak Mariem Mhiri Chokri |
| Institution: | 1.Laboratory of Neurogenetics, Parkinson’s Disease and Cerebrovascular Disease (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia ;2.Clinical Investigation Center (CIC), Habib Bourguiba University Hospital, Sfax, Tunisia ;3.U955-IMRB, Team 10: Biology of the Neuromuscular System, Inserm, UPEC, Créteil, France ;4.Pathology Laboratory, Habib Bourguiba University Hospital, Sfax, Tunisia ;5.Radiology Department, Habib Bourguiba University Hospital, Sfax, Tunisia ; |
| Abstract: | Molecular Biology Reports - Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular disorders, caused by mutations in the dysferlin gene and characterized by a high... |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ | |