KTU (DNAAF2) mutations cause a partial loss of the inner and outer dynein arm complexes. The cilia are completely immotile.
Homozygous mutation c.1214_1215ins ACGATACCTGCGTGGC [p.Gly406Argfs*89]: video 1.
Homozygous mutation c.1214_1215ins ACGATACCTGCGTGGC [p.Gly406Argfs*89]: video 2.
Homozygous mutation c.1214_1215ins ACGATACCTGCGTGGC [p.Gly406Argfs*89]: video 3.
Homozygous mutation c.1214_1215ins ACGATACCTGCGTGGC [p.Gly406Argfs*89]: video 4.
Homozygous mutation c.1214_1215ins ACGATACCTGCGTGGC [p.Gly406Argfs*89]: video 5.
Homozygous mutation c.1214_1215ins ACGATACCTGCGTGGC [p.Gly406Argfs*89]: video 6.
Homozygous mutation c.1214_1215ins ACGATACCTGCGTGGC [p.Gly406Argfs*89]: video 7.
Homozygous mutationc.23C>A [p.Ser8*]: video 1.
Homozygous mutation c.23C>A [p.Ser8*]: video 2.
Homozygous mutation c.23C>A [p.Ser8*]: video 3.
