Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13

Annals of Neurology
J M StajichM A Pericak-Vance

Abstract

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.

References

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Jan 1, 1980·Acta Neuropathologica·F M Tomé, M Fardeau
Jun 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·G M LathropJ Ott
Jul 1, 1994·Human Heredity·A A SchäfferR W Cottingham

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Citations

May 19, 1998·Muscle & Nerve·G B CreelS M Holbach
Dec 5, 2002·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·K J Jadeja, R P Grewal

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