Article
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
Human mutation - 1 Feb 2008
Schwabe Georg C, Hoffmann Katrin, Loges Niki Tomas, Birker Daniel, Rossier Colette, de Santi Margherita M, Olbrich Heike, Fliegauf Manfred, Failly Mike, Liebers Uta, Collura Mirella, Gaedicke Gerhard, Mundlos Stefan, Wahn Ulrich, Blouin Jean-Louis, Niggemann Bodo, Omran Heymut, Antonarakis Stylianos E, Bartoloni Lucia
Abstract excerpt
Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by perturbed or absent beating of motile cilia, which is referred to as Kartagener syndrome (KS) when associated with situs inversus. We present a German family in which five individuals have PCD and one has KS. PCD was confirmed by analysis of native and cultured respiratory ciliated epithelia with high-speed video microscopy. Respiratory...
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