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Novel splicing dysferlin mutation causing myopathy with intra-familial heterogeneity |
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| 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 |
| Affiliation: | 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... |
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