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...
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