✦ LIBER ✦
Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat
✍ Scribed by Spiridon Papapetropoulos; Roberto Lopez-Alberola; Lisa Baumbach; Angela Russell; Manuel A. Gonzalez; Brian C. Bowen; Carlos Singer
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 62 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
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. © 2005 Movement Disorder Society