Article
The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.
European journal of heart failure - 1 Oct 2018
Al-Saaidi Rasha A, Rasmussen Torsten B, Birkler Rune I D, Palmfeldt Johan, Beqqali Abdelaziz, Pinto Yigal M, Nissen Peter H, Baandrup Ulrik, Mølgaard Henning, Hey Thomas M, Eiskjaer Hans, Bross Peter, Mogensen Jens
Abstract excerpt
AIMS: Lamin A/C mutations are generally believed to be associated with a severe prognosis. The aim of this study was to investigate disease expression in three affected families carrying different LMNA missense mutations. Furthermore, the potential molecular disease mechanisms of the mutations were investigated in fibroblasts obtained from mutation carriers. METHODS AND RESULTS: A LMNA-p.Arg216Cys missense...
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