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A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3

✍ Scribed by Maria Muglia; Angela Magariello; Giuseppe Nicoletti; Alessandra Patitucci; Anna Lia Gabriele; Francesca Luisa Conforti; Rosalucia Mazzei; Manuela Caracciolo; Giorgio Casari; Bonaventura Ardito; Marcello Lastilla; Antonio Gambardella; Aldo Quattrone


Publisher
Springer
Year
2002
Tongue
English
Weight
678 KB
Volume
249
Category
Article
ISSN
0340-5354

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Genetic anticipation in a large family w
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We have reinvestigated a large kindred identified over 25 years ago segregating for a form of pure autosomal dominant hereditary spastic paraplegia (HSP). We have examined additional relatives in order to refine the clinical and genetic characteristics of this disorder, and performed an analysis to