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Article

Primary ciliary dyskinesia with CCDC39 variants displaying specific ciliary ultrastructure and movement concordant with the genotype: A case report.

Respiratory investigation - 1 Sept 2022

Abo Miki, Takeuchi Kazuhiko, Ikejiri Makoto, Ueno Takayoshi, Yoneda Tomoaki, Hara Johsuke, Ohkura Noriyuki, Watanabe Satoshi, Kasahara Kazuo, Yano Seiji

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetic disease with chronic airway infection and inflammation caused by ciliary ultrastructural defects and impairment in ciliary function. We present an adult case of PCD with compound heterozygous nonsense variants in CCDC39. The ciliary ultrastructure findings using electron microscopy and ciliary movement using high-speed video analysis matched the genotype. This is the...

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PMID: 35817681
DOI: 10.1016/j.resinv.2022.05.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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