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Frataxin gene point mutations in Italian Friedreich ataxia patients

✍ Scribed by Cinzia Gellera; Barbara Castellotti; Caterina Mariotti; Rossana Mineri; Viviana Seveso; Stefano DiDonato; Franco Taroni

Book ID
106257199
Publisher
Springer
Year
2007
Tongue
English
Weight
253 KB
Volume
8
Category
Article
ISSN
1364-6745

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✍ Giovanni Cuda; Andrea Mussari; Daniela Concolino; Francesco S. Costanzo; Pietro πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 208 KB

Friedreich Ataxia (FA) is a neurodegenerative disorder characterised by progressive gait disturbance, dysarthria, dysmetria and other coordination disorders. The genetic defect is represented by an expansion of GAA repeats in the frataxin gene (FRDA or X25). Hypertrophic cardiomyopathy is a common f