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GAA repeat instability in Friedreich ataxia YAC transgenic mice

✍ Scribed by Sahar Al-Mahdawi; Ricardo Mouro Pinto; Piers Ruddle; Christopher Carroll; Zoe Webster; Mark Pook


Book ID
116981265
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
984 KB
Volume
84
Category
Article
ISSN
0888-7543

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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