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Can J Neurol Sci. 1984 Nov;11(4 Suppl):506-9.

Origin of Friedreich's disease in Quebec.

Abstract

We have been able to trace 40 cases of classical Friedreich's disease from 14 previously unrelated French Canadian kindreds to one common ancestral couple arriving in New France in 1634: Jean Guyon and Mathurine Robin. One member of this couple presumably introduced one gene for Friedreich's disease into the French Canadian population. This gene has now been traced over 12 generations to both parents of the present cases. We plan to use this knowledge to study the spectrum of clinical manifestations of this gene and to carry out gene chromosomal localization studies, using the techniques of linkage and of molecular biology. Such studies in rare autosomal recessive disorders have previously been judged to be almost impossible.

PMID:
6391645
[PubMed - indexed for MEDLINE]
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