Eustachian Tube Growth and Development: Anatomy/Function. Protocol Description. This study measures Eustachian tube function and facial growth over time in three groups of children: one with recurrent ear infections, one with chronic middle ear fluid, and one with little past history of otitis media.
Causes of Kartagener syndrome. Kartagener syndrome is caused by a mutation in the DNAI1 gene, which makes a cellular protein required for normal functioning cilia (cilia line the respiratory tract) and sperm motility.
Mutations in voltage-gated Na + channels cause diseases of skeletal muscle, and most are mutations that alter some aspect of channel inactivation. Na + channels with these gain of function mutations fail to inactivate and conduct sustained inward Na + fluxes (Fig. 2).ifferent types of delayed rectifier K + channels are found in vertebrate nerves, the heart, and skeletal muscle, and they are encoded by different genes (9). Loss of function mutations (mutations that cause channels to conduct fewer ions) in voltage-gated K + channels prolong the duration of the action potential (2).