Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes
Authors:
- S. C. BlumenSBS. C. Blumen
- J. -P. BouchardJBJ. -P. Bouchard
- B. BraisBBB. Brais
- R. L. CarassoRCR. L. Carasso
- D. PaleacuDPD. Paleacu
- V. E. DroryVDV. E. Drory
- S. ChantalSCS. Chantal
- N. BlumenNBN. Blumen
- I. BravermanIBI. Braverman
- 25 August 2009
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 73 (8) , 596-601
Abstract
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.Keywords
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