Pseudodominant Friedreich's ataxia with phenotypic heterogeneity.

Abstract excerpt

OBJECTIVE: A family with a clinically heterogeneous progressive ataxia in two generations is presented. METHODS: Having eliminated mutations within the known dominant spinocerebellar ataxia genes, the family was investigated for expansion at the Friedreich's gene. RESULTS: The affected members (father, son and daughter) were homozygous for the mutation at the Friedreich's gene, while the unaffected (the mother...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child, Preschool
• Share to Family Health
• Share to Friedreich Ataxia