Article
Contribution of SUN1 mutations to the pathomechanism in muscular dystrophies.
Human mutation - 1 Apr 2014
Li Ping, Meinke Peter, Huong Le Thi Thanh, Wehnert Manfred, Noegel Angelika A
Abstract excerpt
Mutations in several genes encoding nuclear envelope (NE) associated proteins cause Emery-Dreifuss muscular dystrophy (EDMD). We analyzed fibroblasts from a patient who had a mutation in the EMD gene (p.L84Pfs*6) leading to loss of Emerin and a heterozygous mutation in SUN1 (p.A203V). The second patient harbored a heterozygous mutation in LAP2alpha (p.P426L) and a further mutation in SUN1 (p.A614V). p.A203V is...
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