Article
Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11.
The European respiratory journal - 1 Feb 2018
Shoemark Amelia, Burgoyne Thomas, Kwan Robert, Dixon Mellisa, Patel Mitali P, Rogers Andrew V, Onoufriadis Alexandros, Scully Juliet, Daudvohra Farheen, Cullup Thomas, Loebinger Michael R, Wilson Robert, Chung Eddie M K, Bush Andrew, Mitchison Hannah M, Hogg Claire
Abstract excerpt
In primary ciliary dyskinesia (PCD), motile ciliary dysfunction arises from ciliary defects usually confirmed by transmission electron microscopy (TEM). In 30% of patients, such as those with DNAH11 mutations, apparently normal ultrastructure makes diagnosis difficult. Genetic analysis supports diagnosis, but may not identify definitive causal variants. Electron tomography, an extension of TEM, produces...
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