Title: | Multitissular involvement in a family with LMNA and EMD mutations. Role of digenic mechanism ? |
Journal : | Neurology, 68, 22 |
Authors: | Ben Yaou R ; Toutain A ; Arimura T ; Demay L ; Massart C ; Peccate C ; Muchir A ; Llense S ; Deburgrave N ; Leturcq F ; Litim KE ; Rahmoun-Chiali N ; Richard P ; Babuty D ; Recan-Budiartha D ; Bonne G |
Material Type: | Article |
Publication Date: | 2007 |
Size: | p. 1883-1894 |
Languages: | English |
Keywords : | cardiac features ; case studies ; electromyography ; emerin ; Emery-Dreifuss muscular dystrophy ; family trees ; fibroblasts ; genetic mutations ; immunofluorescence ; lamin A/C ; LMNA gene ; molecular genetics ; photographies ; protein-protein interactions |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=17536044&ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum |