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Gene Review

FRDA2  -  Friedreich ataxia 2

Homo sapiens

 
 
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Disease relevance of FRDA2

 

High impact information on FRDA2

  • We report localization of a second FRDA locus (FRDA2) to chromosome 9p23-9p11, and we provide evidence for further genetic heterogeneity of the disease, in a family with the classic FRDA phenotype [1].
  • In order to investigate whether retained tendon reflexes are characteristic of FRDA caused by the second locus, FRDA2, we studied an unrelated FRDA patient with retained tendon reflexes [2].

References

  1. Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity. Christodoulou, K., Deymeer, F., Serdaroğlu, P., Ozdemir, C., Poda, M., Georgiou, D.M., Ioannou, P., Tsingis, M., Zamba, E., Middleton, L.T. Neurogenetics (2001) [Pubmed]
  2. Locus heterogeneity in Friedreich ataxia. Kostrzewa, M., Klockgether, T., Damian, M.S., Müller, U. Neurogenetics (1997) [Pubmed]
 
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