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  • Title: Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat.
    Author: Papapetropoulos S, Lopez-Alberola R, Baumbach L, Russell A, Gonzalez MA, Bowen BC, Singer C.
    Journal: Mov Disord; 2005 Oct; 20(10):1380-3. PubMed ID: 16007623.
    Abstract:
    We describe and present a video of a patient with maternally inherited juvenile Huntington's disease (HD) caused by a very large (108-repeat) expansion. Maternally transmitted very large trinucleotide repeats (>100) are extremely rare in juvenile HD and may represent instability during female gametogenesis.
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