Article
Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria.
Journal of neurology - 1 Jun 1991
Filla A, De Michele G, Cavalcanti F, Santorelli F, Santoro L, Campanella G
Abstract excerpt
Three families are described which include members with "typical" Friedreich's disease (FD) and others who are ataxic but do not satisfy all the diagnostic criteria for that disease. In family A two patients have an early-onset, rapidly progressive FD, while two others have a late-onset, more ben...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Family
- Female
- Humans
- Myoclonus
- Neural Conduction
- Pedigree
- Phenotype