Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients

  title={Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients},
  author={Myrian de Castro and Javier Garc{\'i}a-Planells and Eug{\`e}nia Monr{\'o}s and J. S{\'a}nchez Ca{\~n}izares and Rafael P. V{\'a}zquez-Manrique and Juan Jes{\'u}s V{\'i}lchez and Miguel Urtasun and M. Angeles Mart{\'i}n Lucas and Gemma Navarro and Guillermo Izquierdo and Mar{\'i}a Dolores Molt{\'o} and Francesc Palau},
  journal={Human Genetics},
Friedreich's ataxia is caused by mutations in the FRDA gene that encodes frataxin, a nuclear-encoded mitochondrial protein. Most patients are homozygous for the expansion of a GAA triplet repeat within the FRDA gene, but a few patients show compound heterozygosity for a point mutation and the GAA-repeat expansion. We analyzed DNA samples from a cohort of 241 patients with autosomal recessive or isolated spinocerebellar ataxia for the GAA triplet expansion. Patients heterozygous for the GAA… CONTINUE READING


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