Article
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
Mitochondrion - 1 Jan 2011
Mousson de Camaret Bénédicte, Chassagne Maïté, Mayençon Martine, Padet Sylvie, Crehalet Hervé, Clerc-Renaud Pascale, Rouvet Isabelle, Zabot Marie-Thérèse, Rivier François, Sarda Pierre, des Portes Vincent, Bozon Dominique
Abstract excerpt
The POLG genes were sequenced in two unrelated patients presenting with Alpers syndrome. The novel c.3626_3629dupGATA and the c.3643+2T>C alleles were associated in trans with p.A467T and p.[W748S;E1143G], respectively. POLG transcripts from skin fibroblasts showed complete exon 22 skipping for patient 2, but surprisingly partial exon 22 skipping from the c.3626_3629dupGATA for patient 1. The creation of a...
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