Oculopharyngeal muscular dystrophy in Hispanic New Mexicans.

doi:10.1001/jama.286.19.2437

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Article

Oculopharyngeal muscular dystrophy in Hispanic New Mexicans.

JAMA - 21 Nov 2001

Becher M W, Morrison L, Davis L E, Maki W C, King M K, Bicknell J M, Reinert B L, Bartolo C, Bear D G

Abstract excerpt

CONTEXT: Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathy caused by polyalanine triplet repeat expansion in the gene for poly(A) binding protein 2 (PABP2) and is found in isolated cohorts throughout the world. We have observed numerous cases of OPMD in New Mexico. OBJECTIVE: To characterize the clinical, genetic, and demographic features of the OPMD population in New Mexico. DESIGN, SETTING, AND...

Topics

Adult
Aged
DNA-Binding Proteins
Female
Hispanic or Latino
Humans
Life Tables
Male
Middle Aged
Muscular Dystrophies
New Mexico
Phenotype
Poly(A)-Binding Protein II
Trinucleotide Repeat Expansion

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Open in PubMed

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PMID: 11712939
DOI: 10.1001/jama.286.19.2437

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