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triple repeat disorders


Definition: a group of hereditary disorders in which a gene mutation on a specific chromosome produces an abnormal form of protein terminated by a long chain of amino acid glutamate repeats; includes Huntington disease, Kennedy disease, Machado-Joseph disease, myotonic dystrophy, fragile X syndrome, and some spinal cerebellar disorders.

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.