Abstract
Oculopharyngeal muscular dystrophy is a late-onset, autosomally dominant disorder characterized by progressive prosis, dysphagia, and extremity weakness. Linkage of oculopharyngeal muscular dystrophy to 14q11.2-q13 has been reported in a series of French Canadian families. Haplotype analysis in these data shows a single segregating disease chromosome, suggesting a founder effect in this population. We ascertained and sampled for linkage studies 5 multigenerational American families with oculopharyngeal muscular dystrophy. Four of the 5 families have known French Canadian ancestry while the fifth is of English/Scottish origin. A peak multipoint lod score of 6.30 was obtained for the marker MYH7.1 in the families, confirming linkage to 14q11.2-q13. The English/ Scottish family exhibited a different chromosomal haplotype for the oculopharyngeal muscular dystrophy alleles than did the families of French Canadian origin. These data suggest that this family may represent a second, possibly independent mutation in this disorder.
Original language | English (US) |
---|---|
Pages (from-to) | 801-804 |
Number of pages | 4 |
Journal | Annals of neurology |
Volume | 40 |
Issue number | 5 |
DOIs | |
State | Published - Nov 1996 |
Externally published | Yes |
ASJC Scopus subject areas
- Neurology
- Clinical Neurology