Sunday, December 28, 2014

Identical mutation associated with distinct clinical phenotypes of Friedreich’s ataxia: case report

Identical mutation associated with distinct clinical phenotypes of Friedreich’s ataxia: case report . M. Malenica, M. Kukuruzović, S. Bitanga, G. Krakar, B. Valent, Lj. Cvitanović-Šojat; Paediatr Croat. 2014;58:291-4 DOI: http://dx.doi.org/10.13112/PC.2014.51

The cases of our patients prove that it is not advisable to foresee the clinical course based solely on thenumber of repeats.