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Article

Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat.

Movement disorders : official journal of the Movement Disorder Society - 1 Oct 2005

Papapetropoulos Spiridon, Lopez-Alberola Roberto, Baumbach Lisa, Russell Angela, Gonzalez Manuel A, Bowen Brian C, Singer Carlos

Abstract excerpt

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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Identifiers

PMID: 16007623
DOI: 10.1002/mds.20557

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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