In this task, you will be given a sentence. You need to reconize the name of the disorder or disease. Disease is a disorder of structure or function in a human, animal, or plant, especially one that produces specific symptoms or that affects a specific location and is not simply a direct result of physical injury. Although there might be several correct answers, you need to write one of them.

[Q]:  The spectrum of PAX6 mutations in aniridia patients is highly biased , with 92 % of all reported mutations leading to premature truncation of the protein ( nonsense , splicing , insertions and deletions ) and just 2 % leading to substitution of one amino acid by another ( missense ) .
[A]: aniridia


[Q]:  Emerin is a nuclear membrane protein which is missing or defective in Emery - Dreifuss muscular dystrophy ( EDMD ) .
[A]: EDMD


[Q]:  Disruption of splicing regulated by a CUG - binding protein in myotonic dystrophy .
[A]:
myotonic dystrophy