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Published in 2022 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1010015
Abstract: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset disorder characterized by progressive weakness and degeneration of specific muscles. OPMD is due to extension of a polyalanine tract in poly(A) binding protein nuclear 1 (PABPN1). Aggregation of…
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Keywords:
opmd;
muscle;
activity;
muscular dystrophy ... See more keywords