Article
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Human mutation - 1 Jul 2014
Marttila Minttu, Lehtokari Vilma-Lotta, Marston Steven, Nyman Tuula A, Barnerias Christine, Beggs Alan H, Bertini Enrico, Ceyhan-Birsoy Ozge, 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
Abstract excerpt
Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap myopathy, core-rod myopathy, congenital fiber-type disproportion, distal arthrogryposes, and Escobar syndrome. We correlate the clinical picture of these diseases with novel (19) and previously reported (31) mutations of the TPM2 and TPM3 genes. Included are altogether 93 families: 53 with TPM2 mutations and 40...
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