Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

著者: Marttila, Minttu, Lehtokari, Vilma-Lotta, Marston, Steven, Nyman, Tuula A., Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, OÖzge, Cintas, Pascal, Gerard, Marion, Gilbert-Dussardier, Brigitte, Hogue, Jacob S., Longman, Cheryl, Eymard, Bruno, Frydman, Moshe, Kang, Peter B., Klinge, Lars, Kolski, Hanna, Lochmüller, Hans, Magy, Laurent, Manel, Véronique, Mayer, Michèle, Mercuri, Eugenio, North, Kathryn N., Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, de Visser, Marianne, Wilichowski, Ekkehard, Winer, John, Nowak, Kristen, Laing, Nigel G., Winder, Tom L., Monnier, Nicole, Clarke, Nigel F., Pelin, Katarina, Grönholm, Mikaela, Wallgren-Pettersson, Carina
出版事項 2014