Title: | Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy |
Journal : | Neuromuscular disorders : NMD, 12, 10 |
Authors: | Vytopil M ; Ricci E ; Dello Russo A ; Hanisch F ; Neudecker S ; Zierz S ; Ricotti R ; Demay L ; Richard P ; Wehnert M ; Bonne G ; Merlini L ; Toniolo D |
Material Type: | Article |
Publication Date: | 2002 |
Size: | p. 958-963 |
Languages: | English |
Keywords : | autosomal dominant Emery-Dreifuss muscular dystrophy ; genetic mutations ; lamins ; LMNA gene ; penetrance |
Abstract: |
Accès au résumé Pubmed/to pubmed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/12467752?ordinalpos=5&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum |