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Intronic GAA triplet repeat expansion in Friedreich’s ataxia presenting with pure sensory ataxia

✍ Scribed by J. Berciano; O. Combarros; M. De Castro; F. Palau

Publisher
Springer
Year
1997
Tongue
English
Weight
34 KB
Volume
244
Category
Article
ISSN
0340-5354

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GAA trinucleotide repeat expansion in variant Friedreich's ataxia families
✍ 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