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Phylogenetic Analysis of the Friedreich Ataxia GAA Trinucleotide Repeat

✍ Scribed by Cristina M. Justice; Zhining Den; Son V. Nguyen; Mark Stoneking; Prescott L. Deininger; Mark A. Batzer; Bronya J.B. Keats

Book ID
105933574
Publisher
Springer
Year
2001
Tongue
English
Weight
786 KB
Volume
52
Category
Article
ISSN
0022-2844

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✍ Antonio Cruz-Martínez; Buenaventura Anciones; Francesc Palau 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 136 KB

Phenotypic variants in Friedreich's ataxia include late onset, preservation of the lower limbs tendon reflexes, and slow progression. We describe clinical and electrophysiological features from three families with Friedreichlike phenotypes. Friedreich's ataxia diagnosis was confirmed by finding two