Similar to CCDC39, mutations of CCDC40 lead to an inner dynein arm (IDA) and microtubular disorganisation defect. The beating pattern of the cilia is extremely stiff and flickering, and many cilia are immotile.
Mutation p.Ala83Valfs*82 (homozygous): video 1.
Mutation p.Ala83Valfs*82 (homozygous): video 2.
Mutation p.Ala83Valfs*82 (homozygous): video 3.
Mutation p.Ala83Valfs*82 (homozygous): video 4.
Mutation p.Asp1044Serfs*35 (homozygous): video 1.
Mutation p.Asp1044Serfs*35 (homozygous): video 2.
Mutation p.Asp1044Serfs*35 (homozygous): video 3.
Mutation p.Asp1044Serfs*35 (homozygous): video 4.
Mutation p.Asp1044Serfs*35 (homozygous): video 5.
Mutationen (compound heterozygous) p.Ala83Valfs*82 + p.Glu260Argfs*25: video 1.
Mutationen (compound heterozygous) p.Ala83Valfs*82 + p.Glu260Argfs*25: video 2.
