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Variable expression of neurofibromatosis 1 in monozygotic twins

✍ Scribed by Margaret B. Rieley; David A. Stevenson; David H. Viskochil; Brad T. Tinkle; Lisa J. Martin; Elizabeth K. Schorry

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 228 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33851

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## Abstract Monozygotic (MZ), 46‐year‐old, male twins, carrying the same Huntington disease (HD) mutation, presented with a different clinical course. In one of the twins, the disease process started at the age of 32 years with chorea, dysarthria, and a depressed mood. Over 14 years, the disease pr