Friedreich's ataxia.

doi:10.1177/088307380201700501

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Article

Friedreich's ataxia.

Journal of child neurology - 1 May 2002

Pilch Jacek, Jamroz Ewa, Marszał Elzbieta

Abstract excerpt

Friedreich's ataxia is one of the most frequent hereditary ataxias of childhood. The disease is inherited in an autosomal recessive mode. The current state of knowledge concerning genetics, pathophysiology, pathology, clinical course, differential diagnosis, genotype-phenotype correlation, and therapy is presented.

Topics

Age of Onset
Diagnosis, Differential
Exons
Friedreich Ataxia
Genotype
Humans
Phenotype
Point Mutation

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