Article
[Late onset Friedreich ataxia: clinical description of a family in Argentina].
Medicina - 1 Jan 2013
Pérez Akly Manuel, Alvarez Fernando
Abstract excerpt
Friedreich Ataxia (FA) is the most common hereditary ataxia, caused by abnormal expansion of the GAA triplet of the first intron of the X25 gene on chromosome 9. Clinically it occurs in patients under the age of 25 and it is frequently associated with musculoskeletal, endocrine and myocardial disorders. Among their phenotypic variants there are patients starting their symptoms after the age of 25. The latter...
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