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Article

Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes

24 Aug 2009

Abstract excerpt

OBJECTIVE: To assess the evolution and life expectancy in patients with oculopharyngeal muscular dystrophy (OPMD) who are homozygotes for two (GCN)13 expansions in the PABPN1 encoding gene. BACKGROUND: OPMD is particularly frequent among French Canadians (FCs) and Uzbek Jews (UJs), who carry a same size, (GCN)13, PABPN1 mutation. The high rate of consanguinity among UJs together with late disease onset and normal...

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PMID: 19704078
DOI: 10.1212/wnl.0b013e3181b388a3

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