Genetics of Friedreich Ataxia

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-11-6-11

Keywords:

Friedreich Ataxia, Molecular Diagnosis, Hypertrophic Cardiomyopathy

Abstract

Genotype-phenotype correlations in a group of 100 patients with typical Friedreich ataxia (FRDA), and in three smaller clinically atypical groups (Arcadian FRDA, late-onset FRDA (LOFA), and FRDA with retained reflexes (FARR)), were studied at the Centre de Recherche Louis-Charles Simard, Service de Genetique Medicale, Service de Neurologie, Hopital Sainte-Justine, Departments of Genetics and Medicine, McGill University, Montreal General Hospital, and other centers.

Published

1997-06-01

Issue

Section

Degenerative Diseases