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.

 Mutations of the ATM gene detected in Japanese ataxia - telangiectasia patients : possible preponderance of the two founder mutations 4612del165 and 7883del5 .
ataxia - telangiectasia

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

 Patients were selected because they were heterozygous or homozygous for C2 deficiency .

C2 deficiency

