Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia

• Published in: The European respiratory journal Vol. 44; no. 6; pp. 1579 - 1588
• Main Authors: RAIDT, Johanna, WALLMEIER, Julia, WERNER, Claudius, HJEIJ, Rim, ONNEBRINK, Jörg Grosse, PENNEKAMP, Petra, LOGES, Niki T, OLBRICH, Heike, HÄFFNER, Karsten, DOUGHERTY, Gerard W, OMRAN, Heymut
• Format: Journal Article
• Language: English
• Published: Leeds Maney 01.12.2014
• Subjects: Biological and medical sciences; Cilia - physiology; Complex syndromes; Gene Frequency; Genetic Variation; Genotype; Heterozygote; Homozygote; Humans; Kartagener Syndrome - genetics; Kartagener Syndrome - physiopathology; Medical genetics; Medical sciences; Microscopy, Video; Mutation; Phenotype; Pneumology; Beat frequency; Malformation; Respiratory disease; Genetic variant; Situs inversus; Immotile cilia syndrome; ENT disease; Congenital disease

Primary ciliary dyskinesia (PCD) is a rare genetic disorder leading to recurrent respiratory tract infections. High-speed video-microscopy analysis (HVMA) of ciliary beating, currently the first-line diagnostic tool for PCD in most centres, is challenging because recent studies have expanded the spe...