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One of the diseases resulting from such mutations in the PHOX2B gene is the disease CCHS. This is a rare and life-threatening syndrome in which babies, children and adults stop breathing as soon as they fall asleep. The patients must be connected to ventilators in order not to die in their sleep
Toxic proteins accumulate in the brains of Alzheimer's patients. In the familial Alzheimer's patients, the accumulation mechanism is clear since there is a circumstantial relationship between the mutations and the identity of the defective proteins. In the random disease, on the other hand, the reason for the accumulation of the defective proteins was unknown
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