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Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia

โœ Scribed by D.J.H. McCabe; F. Ryan; D.P. Moore; S. McQuaid; M.D. King; A. Kelly; K. Daly; D.E. Barton; R.P. Murphy


Book ID
106096030
Publisher
Springer
Year
2000
Tongue
English
Weight
446 KB
Volume
247
Category
Article
ISSN
0340-5354

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GAA trinucleotide repeat expansion in va
โœ Antonio Cruz-Martรญnez; Buenaventura Anciones; Francesc Palau ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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