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.
Find a translation for the oculopharyngeal muscular dystrophy definition in other languages:
Select another language:
Discuss these oculopharyngeal muscular dystrophy definitions with the community:
Word of the Day
Would you like us to send you a FREE new word definition delivered to your inbox daily?
Use the citation below to add this definition to your bibliography:
"oculopharyngeal muscular dystrophy." Definitions.net. STANDS4 LLC, 2015. Web. 3 Aug. 2015. <http://www.definitions.net/definition/oculopharyngeal muscular dystrophy>.