Electrophysiological and histological follow-up study in 15 Friedreich's ataxia patients
β Scribed by Dr. Lucio Santoro; Anna Perretti; Dr. Claudio Crisci; Michele Ragno; Dr. Riccardo Massini; Dr. Alessandro Filla; Dr. Giuseppe De Michele; Giuseppe Caruso
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 476 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0148-639X
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Approximately 95% of all Friedreich's ataxia (FA) patients are homozygous for a large GAA triplet-repeat expansion in the first intron of the Friedreich's ataxia gene (FRDA). The remaining cases are expected to be compound heterozygous with a GAA expansion on one allele and a point mutation on the o
Forty-three former polio patients now complaining of new progressive muscle weakness (symptomatic patients) plus 13 former polio patients without new neuromuscular complaints were included in the study. The symptomatic patients reported high frequencies of other neuromuscular complaints and a declin
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