✦ LIBER ✦

Oculopharyngeal muscular dystrophy: Non–French-Canadian pedigrees

✍ Scribed by George B. Creel; Michael J. Giuliani; David Lacomis; Suzanne M. Holbach

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 70 KB
Volume: 21
Category: Article
ISSN: 0148-639X
DOI: 10.1002/(sici)1097-4598(199806)21:6<816::aid-mus19>3.0.co;2-q

No coin nor oath required. For personal study only.

✦ Synopsis

Oculopharyngeal muscular dystrophy (OPMD) is a late adult onset, autosomal dominant muscular dystrophy characterized by ptosis and dysphagia. The OPMD gene has been localized to chromosome 14q11.2-q13 in French-Canadian pedigrees. We report 2 non-French-Canadian families with OPMD. Affected ancestors were immigrants to the United States from Italy and Normandy. The Norman pedigree does not share the French-Canadian haplotype. OPMD appears to be a heterogeneous disorder with similar phenotypes, but probably with different gene loci.

📜 SIMILAR VOLUMES

Unique PABP2 mutations in ?Cajuns? sugge

Unique PABP2 mutations in ?Cajuns? suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry

✍ Scacheri, Peter C.; Garcia, Carlos; H�bert, Richard; Hoffman, Eric P. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 1 views

## Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset autosomal dominant myopathy found world-wide, but with the highest incidence in French-Canadians. Short GCG expansions in the poly(A) binding protein 2 (PABP2) gene were identified recently as the molecular basis for OPMD in French-Can