Article
Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review).
International journal of molecular medicine - 1 Jun 2001
Palau F
Abstract excerpt
Friedreich's ataxia is an autosomal recessive neuro-degenerative disorder involving both central and peripheral nervous system. Patients also show a systemic clinical picture presenting heart disease and diabetes mellitus or glucose intolerance. The disease is caused by mutations in the FRDA gene mapped on chromosome 9q13. The product of the gene is frataxin, an 18 kDa soluble mitochondrial protein with 210 amino...
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