Definitions for oculopharyngeal muscular dystrophy
This page provides all possible meanings and translations of the word oculopharyngeal muscular dystrophy
oculopharyngeal muscular dystrophy(noun)
a form of muscular dystrophy that usually begins between early adulthood and middle age and first affects muscles of the eyelid and throat; progresses slowly with swallowing problems common as the disease progresses; inheritance is autosomal dominant
Oculopharyngeal muscular dystrophy
Oculopharyngeal muscular dystrophy is an autosomal dominant neuromuscular disease which appears in early middle age. OPMD is an example of a trinucleotide repeat disorder caused by expanding (GCN)10 to (GCN)11-17 at the 5' end of the coding region for PABPN1. This expands the polyalanine tract at the N-terminus of PABPN1 from 10 to 11-17 alanines.
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