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Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13.
Oculopharyngeal muscular dystrophy is a late-onset, autosomally dominant disorder characterized by progressive ptosis, 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.
Duke Scholars
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- Scotland
- Pharyngeal Muscles
- Oculomotor Muscles
- Neurology & Neurosurgery
- Muscular Dystrophies
- Lod Score
- Humans
- Haplotypes
- Genetic Markers
- Genetic Linkage
Citation
![Journal cover image](https://secure.syndetics.com/index.aspx?isbn=/lc.gif&issn=0364-5134&client=dukeuniv)
Published In
DOI
ISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Scotland
- Pharyngeal Muscles
- Oculomotor Muscles
- Neurology & Neurosurgery
- Muscular Dystrophies
- Lod Score
- Humans
- Haplotypes
- Genetic Markers
- Genetic Linkage