Vol. 26 (1) 2005 Neuro endocrinology letters

Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman.

: DNA testing broadens diagnostic tools available for hereditary ataxias. However, together with current knowledge of genes and their mutations crop up new phenotype figures of diseases already well known. Diagnostic problems in practice can consist in part due to the very similar symptoms of hereditary ataxias and acquaintance in or av.....