Article
LMNA Mutation c.917T>G (p.L306R) Leads to Deleterious Hyper-Assembly of Lamin A/C and Associates with Severe Right Ventricular Cardiomyopathy and Premature Aging.
Human mutation - 1 Jul 2015
Alastalo Tero-Pekka, West Gun, Li Song-Ping, Keinänen Anni, Helenius Mikko, Tyni Tiina, Lapatto Risto, Turanlahti Maila, Heikkilä Päivi, Kääriäinen Helena, Laakso Markku, Mauermann Monika, Herrmann Harald, Pihkala Jaana, Taimen Pekka
Abstract excerpt
Mutations in the LMNA gene coding for the nuclear lamina proteins lamin A and its smaller splice form lamin C associate with a heterogeneous group of diseases collectively called laminopathies. Here, we describe a 2-year-old patient with a previously undescribed phenotype including right ventricular cardiomyopathy, progeroid features, and premature death. Sequencing of LMNA revealed a novel heterozygous de novo...
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