Anaesthesia for a patient with Friedreich’s ataxia and cardiomyopathy
✍ Scribed by Alison M. Campbell; G. Allen Finley
- Publisher
- Springer-Verlag
- Year
- 1989
- Tongue
- French
- Weight
- 277 KB
- Volume
- 36
- Category
- Article
- ISSN
- 1496-8975
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Friedreich's ataxia (FRDA) is caused by point mutations or trinucleotide repeat expansions in both alleles of the gene encoding frataxin. Studies of frataxin homologues in lower eukaryotes suggest that mitochondrial iron accumulation may underlie the pathophysiology of FRDA. To evaluate the possible
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